Condition(s)
Primary ciliary dyskinesia 7
ORC3-related disorder
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
Ataxia-telangiectasia syndrome
Sialic acid storage disease, severe infantile type
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Spastic paraplegia 79A, autosomal dominant, with ataxia
MIRAGE syndrome
Meier-Gorlin syndrome 7
Skraban-Deardorff syndrome
Intellectual disability, autosomal dominant 9
not specified
Nephronophthisis-like nephropathy 1
Perrault syndrome 3
Actin accumulation myopathy
ADCY2-related disorder
Congenital myasthenic syndrome 8
Neuropathy, hereditary sensory, type 1F
Autosomal recessive DOPA responsive dystonia
not provided
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Congenital disorder of glycosylation, type Iw, autosomal dominant
Inborn genetic diseases
ZNF331 deletion
Neurodevelopmental disorder with microcephaly and movement abnormalities
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
NOTCH1-related disorder
Neurodevelopmental disorder with hearing loss and spasticity
KDR-related disorder
ANE syndrome
Intellectual disability, autosomal dominant 54
Left ventricular noncompaction 8
Combined oxidative phosphorylation defect type 20
KIF5B-related osteogenesis imperfecta syndrome
PAPSS1-related disorder
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MYCBP2-related disorder
TMEM161B-related lissencephaly
DHX9-related disorder
DAGLA-related disorder
Malan overgrowth syndrome
SPTSSA-related disorder|Spastic paraplegia 90A, autosomal dominant
Familial cold autoinflammatory syndrome 2
Phenylketonuria
Houge-Janssens syndrome 2
ZNF865-related disorder
SREBF2-related disorder
Snijders Blok-Campeau syndrome
Siddiqi syndrome
Nizon-Isidor syndrome
Developmental and epileptic encephalopathy 96
Neurodevelopmental delay|Seizure
Autosomal recessive spastic paraplegia type 78
Developmental and epileptic encephalopathy, 28
Kleine-Levin syndrome
SSR4-congenital disorder of glycosylation
Intellectual disability, autosomal dominant 1
Aicardi-Goutieres syndrome 9
Intellectual developmental disorder with hypotonia and behavioral abnormalities
Oculogastrointestinal-neurodevelopmental syndrome
Spastic ataxia 5|not provided
Radio-Tartaglia syndrome
Developmental and epileptic encephalopathy, 73
RRAGD-related disorder|Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
not provided|PLA2G6-associated neurodegeneration
Charcot-Marie-Tooth disease, axonal, type 2FF
DPH5-related diphthamide-deficiency syndrome|Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
IQGAP1-associated immune condition
PPP5C-related disorder|not provided
CHARGE association
Intellectual disability, autosomal dominant 13
Lamb-Shaffer syndrome
MIR145-related multisystemic smooth muscle dysfunction
Pontocerebellar hypoplasia, type 13
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Intellectual disability, X-linked 99, syndromic, female-restricted
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Parkinsonism-dystonia 3, childhood-onset
ATP5F1A-related disorder
Kabuki syndrome 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
NAV2-related neurodevelopmental condition
Mitochondrial complex 1 deficiency, nuclear type 34
Basal ganglia calcification, idiopathic, 5|not provided
PHACTR1-related neurodevelopmental condition
ATAD3 gene cluster related condition
Spastic paraplegia 84, autosomal recessive|PI4KA-related disorder
not provided|Primary ciliary dyskinesia
Congenital malabsorptive diarrhea 4|not provided
Bone mineral density quantitative trait locus 18|not provided
Adult-onset autosomal dominant demyelinating leukodystrophy
Inborn genetic diseases|RAB5C-related disorder
FLNA-related disorder
Vertebral hypersegmentation and orofacial anomalies
Leber congenital amaurosis with early-onset deafness|not provided
STAG2-related disorder|not provided
TNXB-related hypermobile Ehlers-Danlos syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Tooth agenesis, selective, 7
RAB5B-associated surfactant dysfunction disorder
not specified|not provided|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
GABRA3-related disorder
Infantile liver failure syndrome 3
RPA1-related short telomere syndrome
COPB2-related disorder
SPOP-related neurodevelopmental condition
Gorlin syndrome
Spondyloepimetaphyseal dysplasia, Bieganski type
Developmental and epileptic encephalopathy, 72
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MAP3K20-related disorder
not provided|Glutamine related condition
not provided|Pyruvate dehydrogenase E1-alpha deficiency
not provided|AXIN2-related disorder|Oligodontia-cancer predisposition syndrome
TNPO2-related disorder
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
Coffin-Siris syndrome 10
Lissencephaly type 1 due to doublecortin gene mutation
not provided|Vici syndrome
Kleefstra syndrome 2
Cholestasis-pigmentary retinopathy-cleft palate syndrome|MED12-related disorder|Blepharophimosis - intellectual disability syndrome, MKB type
Aicardi-Goutieres syndrome 9|not provided
DNM1L-related movement disorder|not provided
not provided|ATP5F1A-related disorder
Nephropathy, chronic tubulointerstitial|Hypokalemia|Hypomagnesemia
KCNC2-related disorder
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Leukodystrophy, hypomyelinating, 18
Dystonia 28, childhood-onset
PIP5K1C-related neurodevelopmental disorder
MAST3-related disorder|Pervasive developmental disorder|not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
PRKAR1B-related neurodevelopmental disorder|not provided
Autosomal systemic lupus erythematosus type 16
not provided|DNASE1L3-related disorder|Autosomal systemic lupus erythematosus type 16
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
SPTBN1-related disorder
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Osteogenesis imperfecta type I
Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
not specified|ANE syndrome
not provided|DONSON-related Meier-Gorlin syndrome|Meier-Gorlin syndrome
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
Immunodeficiency 67
Intellectual disability, X-linked 102|not provided
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 1
Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome
Developmental and epileptic encephalopathy, 31
BICRA-related disorder
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)
Polyglandular autoimmune syndrome, type 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Congenital contractural arachnodactyly
Developmental and epileptic encephalopathy, 2
RNH1-related disorder
Kleefstra syndrome 1
Stickler syndrome type 1
See cases|BAP1-associated neurodevelopmental disorder|BAP1-related tumor predisposition syndrome|Kury-Isidor syndrome|Kury-Isidor syndrome
RNF2-associated neurodevelopmental condition
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements|Inborn genetic diseases
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy|Inborn genetic diseases
not provided|Developmental disorder|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
GET4-related disorder
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2D
Increased susceptibility to fractures|Diarrhea|UNC45A-associated Cholestasis|Impaired Hearing
UNC45A-associated Cholestasis|Impaired Hearing|Diarrhea|Increased susceptibility to fractures
MPEG1-related immunodeficiency
Neurodevelopmental disorder with alopecia and brain abnormalities
Pseudohypoparathyroidism type 1B
Kufor-Rakeb syndrome
MADD-related disorder
Deeah syndrome|MADD-related disorder
Pitt-Hopkins syndrome
Brain small vessel disease 1 with or without ocular anomalies
Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Congenital titinopathy
Congenital titinopathy
Koolen-de Vries syndrome
Wieacker-Wolff syndrome, female-restricted
Neurofibromatosis, type 1
ELFN1-related disorder
Immunodeficiency, common variable, 10
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|Inborn genetic diseases
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ATP5PO-related disorder|Leigh syndrome
Wieacker-Wolff syndrome
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Ehlers-Danlos syndrome, classic type, 2
MTSS2-related disorder|MTSS2-related neurodevelopmental disorder|Syndromic intellectual disability|not provided|not specified
EZH1-neurodevelopmental syndrome
not provided|Neurodevelopmental disorder with hypotonia and dysmorphic facies|GNB2-related disorder
Congenital myasthenic syndrome 5
Severe combined immunodeficiency due to CARMIL2 deficiency
Renpenning syndrome
Wolf-Hirschhorn like syndrome
Gillespie syndrome
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
Intellectual disability, autosomal dominant 56
Neurodevelopmental disorder with hearing loss and spasticity|Neurodevelopmental delay|AFG2B-related disorder|SPATA5L1-associated disorder|See cases|not provided
Leukoencephalopathy with calcifications and cysts
Mucopolysaccharidosis, MPS-III-C
Combined deficiency of sialidase AND beta galactosidase
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities|Motor delay|Global developmental delay|Hypotonia|EEG abnormality|Abnormality of the skin|Movement disorder|Feeding difficulties|Abnormality of the respiratory system|Abnormality of speech or vocalization|Abnormality of temperature regulation|Abnormality of vision|Neurogenic bladder
Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia
CDK19-related disorder|Inborn genetic diseases
Leukoencephalopathy with calcifications and cysts|not provided
Inborn genetic diseases|Idiopathic environmental intolerance|Peripheral neuropathy|Neuromuscular disease|not provided|Neuronopathy, distal hereditary motor, autosomal recessive 8
Inborn genetic diseases|not provided
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
FAM177A1-related disorder
Bohring-Opitz syndrome
Hypokalemic periodic paralysis, type 2
Nephropathic cystinosis
Intellectual disability, autosomal dominant 58
Autism spectrum disorder due to AUTS2 deficiency
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|Inborn genetic diseases|not provided
RNU4ATAC-related disorder|Roifman syndrome|not provided
HNRNPA1-related multisystem proteinopathy
TOMM70-related neurodevelopmental disorder
CDKL5-related disorder
Infantile liver failure syndrome 2
Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C|not provided|Retinal dystrophy|not specified
not provided|Intellectual disability, autosomal dominant 58
not provided|Charcot-Marie-Tooth disease axonal type 2T
VEXAS syndrome|UBA1-related disorder|not provided|Inborn genetic diseases|Infantile-onset X-linked spinal muscular atrophy
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|Familial Interstitial Pneumonia|Pulmonary fibrosis
SPOP-related disorder|Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Developmental and epileptic encephalopathy, 4
not provided|Familial cancer of breast|Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Early Infantile Epileptic Encephalopathy, Autosomal Recessive|Developmental and epileptic encephalopathy, 28|Malignant tumor of esophagus|WWOX-related disorder|Developmental and epileptic encephalopathy, 28|Autosomal recessive spinocerebellar ataxia 12|Malignant tumor of esophagus|not provided|Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1|Abnormality of the nervous system
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|not provided
D-6618|Developmental and epileptic encephalopathy, 83|not provided
Rett syndrome
Developmental and epileptic encephalopathy, 35
Glaucoma 3, primary congenital, E
CHRNA3-related disorder
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities|not provided
Au-Kline syndrome
Inborn genetic diseases|EIF2AK2-related disorder|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
KMT2C-related disorder
not provided|CDH2-related disorder
Galloway-Mowat syndrome 1
Retinal dystrophy and obesity|not provided
DROSHA-related neurodevelopmental disorder
Spinocerebellar ataxia type 5
EIF2AK2-related disorder|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
EIF2AK1-related disorder
ADGRV1-related myoclonic epilepsy
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature|Inborn genetic diseases
Inborn genetic diseases|not provided|Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Developmental and epileptic encephalopathy, 8
Atrial septal defect 8
Developmental and epileptic encephalopathy, 69
Diaphyseal dysplasia
Amyotrophic lateral sclerosis type 23|not provided|Inclusion body myopathy and brain white matter abnormalities
not provided|neuro-ectodermal phenotype|Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies|Hemihypertrophy
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
not provided|Mitochondrial complex 1 deficiency, nuclear type 34|Mitochondrial disease
Generalized epilepsy with febrile seizures plus, type 2
LMNA-associated condition
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
PRNP-associated condition
NUDT2-associated condition|not provided|Intellectual developmental disorder with or without peripheral neuropathy|Complex neurodevelopmental disorder
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Hereditary cancer-predisposing syndrome|not provided
SARS2-associated condition
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome|SARS2-associated condition|not provided
NSD2-related disorder
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
SLC25A46-associated optic atrophy spectrum disorder
Ataxia-telangiectasia-like disorder 1
ARX-associated condition
Scoliosis|not provided
Autism
WHSC1-related disorder
SLC25A46-associated optic atrophy spectrum disorder|Neuropathy, hereditary motor and sensory, type 6B
Alstrom syndrome
Duchenne muscular dystrophy
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Stankiewicz-Isidor syndrome
Inborn genetic diseases|Developmental and epileptic encephalopathy, 52|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1|Episodic ataxia type 2|CACNA1A-related disorder|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
not provided|Predisposition to dissection
Kugelberg-Welander disease
TONSL-related disorder
not provided|TONSL-related disorder
PIGQ-related disorder
Joubert syndrome 30
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
X-linked intellectual disability-cerebellar hypoplasia syndrome
Deficiency of aromatic-L-amino-acid decarboxylase
GP130-deficient hyper-IgE syndrome|not provided
not provided|GP130-deficient hyper-IgE syndrome
MYH2-related disorder|Myopathy, proximal, and ophthalmoplegia
NBEA-related developmental delay and generalized epilepsy
not provided|Idiopathic basal ganglia calcification 1
Inborn genetic diseases|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Monocytopenia with susceptibility to infections
Shwachman-Diamond syndrome 2
Shwachman-Diamond syndrome 2|not provided
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3|not provided
Osteopathia striata with cranial sclerosis
Joubert syndrome 30|not provided
not provided|CIT-related disorder|Microcephaly 17, primary, autosomal recessive
Microcephaly 17, primary, autosomal recessive
Cardiofaciocutaneous syndrome 3
SPTBN1-related neurodevelopmental disease
LONP1-related disorder
1p13.3 deletion syndrome
Spastic paraplegia 80, autosomal dominant|not provided
Noonan syndrome 12|Inborn genetic diseases|Noonan syndrome|not provided
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|IRF2BPL-related disorder|not provided
Propionic acidemia|Lactic acidosis|Cardiomyopathy
not specified|Maturity-onset diabetes of the young type 11|BLK-related disorder|not provided
Congenital disorder of glycosylation with defective fucosylation 2|not provided
Congenital disorder of glycosylation with defective fucosylation 2
not provided|Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome|ALPK1-related disorder
Kilquist syndrome
Congenital heart defects, multiple types, 4
Paragangliomas 1
Intellectual disability, autosomal dominant 20
SLC25A42-related mitochondrial encephalomyopathy
DYRK1A-related intellectual disability syndrome
Inborn genetic diseases|AIFM1-related hypomyelination with spondylometaphyseal dysplasia|Spondyloepimetaphyseal dysplasia, Bieganski type
Aicardi-Goutieres syndrome 4
Autoimmune lymphoproliferative syndrome type 1
Severe intellectual disability-progressive spastic diplegia syndrome
Charcot-Marie-Tooth disease, type IA
Deafness-infertility syndrome
Intellectual disability, autosomal dominant 27
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy
Primary familial dilated cardiomyopathy|TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy
TMEM94-related disorder
Branched-chain keto acid dehydrogenase kinase deficiency
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA|MAPK8IP3-related disorder
MPV17-related mitochondrial DNA maintenance defect|not provided|Charcot-Marie-Tooth disease, axonal, type 2EE
Inborn genetic diseases|TRAF7-related syndrome|TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome|Cardiac, facial, and digital anomalies with developmental delay|not provided
Eichsfeld type congenital muscular dystrophy|See cases|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|not provided
Intellectual developmental disorder, autosomal dominant 64|Neurodevelopmental disorder
not provided|Polycystic kidney disease, adult type
Alagille syndrome due to a JAG1 point mutation
Hereditary spastic paraplegia 35
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
IRF2BPL-related disorder|not provided
Distal myopathy|Motor neuropathy
GNAS-related disorder|Pseudopseudohypoparathyroidism
Coffin-Siris syndrome 1
Idiopathic basal ganglia calcification 1
Autosomal recessive spastic paraplegia type 76
not provided|DeSanto-Shinawi syndrome due to WAC point mutation
PRELP-related osteosclerosis
TSPEAR-related disorder of tooth and hair follicle morphogenesis|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis|not provided
TRIM8-related epileptic encephalopathy|not provided|Focal segmental glomerulosclerosis and neurodevelopmental syndrome|Inborn genetic diseases
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Infantile neuroaxonal dystrophy
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided
IRF2BPL-related disorder
Cornelia de Lange syndrome 5
Cohen-Gibson syndrome
Bethlem myopathy 1A
Ververi-Brady syndrome
CEBALID syndrome|MTOR-related megalencephaly and pigmentary mosaicism in skin|Isolated focal cortical dysplasia type II|not provided
Complex cortical dysplasia with other brain malformations 3|not provided
Epileptic encephalopathy, infantile or early childhood, 3
not provided|Inborn genetic diseases|Mitchell syndrome|Acyl-CoA oxidase deficiency|ACOX1-related disorder
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
not provided|Hereditary spastic paraplegia|Hereditary spastic paraplegia 50
not provided|Severe global developmental delay|Intellectual disability|Autism|Lower limb spasticity|Cerebellar ataxia|Focal-onset seizure|Microcephaly|Global developmental delay|Hypotonia|Large for gestational age|Seizure|Inborn genetic diseases
Inborn genetic diseases|IRF2BPL-related disorder|Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
CRELD1-related disorder|Atrioventricular septal defect, susceptibility to, 2|not provided
Inborn genetic diseases|Developmental and epileptic encephalopathy, 64|not provided
Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A|not provided
IFIH1-related disorder|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related immunodeficiency|not provided|Singleton-Merten syndrome 1|Immunodeficiency 95|Aicardi-Goutieres syndrome 7
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S|not provided|Charcot-Marie-Tooth disease axonal type 2S
not provided|Charcot-Marie-Tooth disease axonal type 2S|Inborn genetic diseases|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S
Mucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
Dystonia 5
Autosomal recessive limb-girdle muscular dystrophy type 2I
not provided|Van Maldergem syndrome 2
Mandibulofacial dysostosis-microcephaly syndrome
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
ZNF292-related neurodevelopmental condition
Fanconi anemia complementation group R
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|not provided
Pontocerebellar hypoplasia type 6|not provided
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Landau-Kleffner syndrome
FGF12-related disorder|Developmental and epileptic encephalopathy, 47|not provided
Smith-Magenis syndrome
Idiopathic basal ganglia calcification 1|not provided
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Developmental and epileptic encephalopathy, 44
Intellectual disability, autosomal dominant 5|not provided|Inborn genetic diseases
Neurodevelopmental disorder with involuntary movements
Lethal congenital contracture syndrome 7|Inborn genetic diseases
GLYR1-related disorder
GDF11-associated multiple congenital anomalies and ID
EVI5-related disorder
ABCA2-related disorder|not provided
ABCA2-related disorder
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination|not provided
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
MYBPC1-related disorder|Myopathy, congenital, with tremor|not provided
CACNA1C-related disorder
USP7-related disorder
TBX2-related disorder|Vertebral anomalies and variable endocrine and T-cell dysfunction
Hereditary spastic paraplegia 7
SMARCC2-related disorder|SMARCC2-related BAFopathy
Mucopolysaccharidosis, MPS-III-B|not provided|Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B|not provided
not provided|Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
ASXL3-related disorder|Inborn genetic diseases|Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
AGTPBP1-related disorder
VARS2-related disorder|not provided|Inborn genetic diseases|Combined oxidative phosphorylation defect type 20|See cases
Odontochondrodysplasia 1
Autosomal recessive ataxia, Beauce type
not provided|Hereditary spastic paraplegia 11
ALG1-congenital disorder of glycosylation
TRIP12 associated autism with facial dysmorphology
not specified|Pontocerebellar hypoplasia type 2D|not provided
Wiedemann-Steiner syndrome
Coffin-Lowry syndrome
Epileptic encephalopathy, infantile or early childhood, 1
Proteasome-associated autoinflammatory syndrome 2|Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Noonan syndrome|Cardiovascular phenotype|Hereditary cancer-predisposing syndrome|not provided|Noonan syndrome 2|Schwannomatosis 2
Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome|Cardiovascular phenotype
Alexander disease
not provided|Desmin-related myofibrillar myopathy
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Adrenoleukodystrophy
Inborn genetic diseases|Intellectual disability, autosomal dominant 5
Van der Woude syndrome 1|Developmental and epileptic encephalopathy, 69|Inborn genetic diseases|not provided
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|Inborn genetic diseases
Developmental and epileptic encephalopathy, 38|Inborn genetic diseases
H3F3A-related disorder|not provided|Bryant-Li-Bhoj neurodevelopmental syndrome 1|Inborn genetic diseases
Heimler syndrome 2|not provided|Peroxisome biogenesis disorder 4B|Peroxisome biogenesis disorder
Cystic fibrosis|not provided|CFTR-related disorder|Bronchiectasis with or without elevated sweat chloride 1
Cognitive impairment with or without cerebellar ataxia|Developmental and epileptic encephalopathy, 13
CDKL5 disorder
Arthrogryposis, distal, with impaired proprioception and touch|not provided
Inborn genetic diseases|not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
not provided|IRF2BPL-related disorder
not provided|Recessive dystrophic epidermolysis bullosa
Intellectual disability, autosomal dominant 56|not provided
Dilated cardiomyopathy 1GG|Hereditary cancer-predisposing syndrome|not provided|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5
Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type
not provided|Autosomal recessive spastic paraplegia type 78|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|Inborn genetic diseases|Kufor-Rakeb syndrome|Neurodegeneration with brain iron accumulation
Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency|Stormorken syndrome|Myopathy with tubular aggregates|not provided
Hereditary hemorrhagic telangiectasia
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 14B|not provided
Spongiform encephalopathy with neuropsychiatric features
Myopathy|Severe neonatal hypotonia improving with age
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
SLC35A2-congenital disorder of glycosylation
Senior-loken syndrome 3|Nephronophthisis 1
Decreased activity of mitochondrial ATP synthase complex|Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
Amelocerebrohypohidrotic syndrome
Marfan syndrome
Brown-Vialetto-van Laere syndrome 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Rett syndrome, congenital variant
Action myoclonus-renal failure syndrome
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia
Perrault syndrome 3|not provided
Epilepsy|Developmental and epileptic encephalopathy, 77|Inborn genetic diseases|not provided|PIGQ-related disorder
not provided|Pyruvate dehydrogenase E2 deficiency
Baraitser-winter syndrome 2|not provided
not provided|Megaconial type congenital muscular dystrophy
not provided|Dystonia 28, childhood-onset|Inborn genetic diseases
CACNA1A-related disorder|not provided
COG4-congenital disorder of glycosylation|Microcephalic osteodysplastic dysplasia, Saul-Wilson type|Inborn genetic diseases|not provided
POLR3A-related disorder|not provided|Pol III-related leukodystrophy|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Developmental and epileptic encephalopathy, 33|Intellectual disability, autosomal dominant 38|Intellectual disability, autosomal dominant 38|Developmental and epileptic encephalopathy, 33|Inborn genetic diseases|not provided|EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy|EEF1A2-related disorder
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|not provided|Mitochondrial disease
Autosomal recessive spinocerebellar ataxia 12|Developmental and epileptic encephalopathy, 1|not provided
Developmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
WDR37-related disorder|Congenital cerebellar hypoplasia|Epilepsy|Developmental delay|Intellectual disability|Dysmorphism|Congenital ocular coloboma|Neurooculocardiogenitourinary syndrome
Inborn genetic diseases|not provided|WARS2-related disorder|Neurodevelopmental disorder|Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures|Parkinsonism-dystonia 3, childhood-onset
Inborn genetic diseases|Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided
not provided|Combined oxidative phosphorylation deficiency 32
not specified|ANK3-related disorder|not provided|Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome|not specified|not provided
Osteogenesis imperfecta|Predisposition to dissection|not specified|Ehlers-Danlos syndrome, classic type, 1|Osteogenesis imperfecta type I|Connective tissue disorder|Ehlers-danlos syndrome, arthrochalasia type, 2|not provided|Cardiovascular phenotype
Intellectual disability, autosomal dominant 54|not provided|Inborn genetic diseases|Abnormality of the nervous system
Epileptic encephalopathy, infantile or early childhood, 2|not provided
not provided|Infantile liver failure syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1|not provided|Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2O|not provided|Intellectual disability, autosomal dominant 13
CHRNA3-related disorder|not provided
Neurodevelopmental disorder|not provided|MORC2-related developmental disorder|MORC2-related disorder|not specified|Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy|Charcot-Marie-Tooth disease axonal type 2Z
Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C|Retinal dystrophy|not provided
Complex cortical dysplasia with other brain malformations 5|not provided
Van Maldergem syndrome 2|FAT4-related disorder|not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|not provided|Inborn genetic diseases
Progressive sclerosing poliodystrophy|not provided|Mitochondrial DNA depletion syndrome|Primary progressive multiple sclerosis|Inborn genetic diseases
TSPEAR-related disorder|not specified|TSPEAR-related disorder of tooth and hair follicle morphogenesis|Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis|not provided|Inborn genetic diseases
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Brain small vessel disease 1 with or without ocular anomalies|not provided
not provided|COX20-related disorder|Inborn genetic diseases|Mitochondrial complex 4 deficiency, nuclear type 11
not provided|Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Mitochondrial complex 4 deficiency, nuclear type 11|not provided
not provided|IFIH1-related immunodeficiency|Immunodeficiency 95|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|IFIH1-related disorder|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Inborn genetic diseases|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7
PIK3CA related overgrowth syndrome|CLOVES syndrome|Megalencephaly-capillary malformation-polymicrogyria syndrome|Cowden syndrome|PIK3CA-related disorder|not provided
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Intellectual disability, X-linked syndromic, Turner type|not provided|Inborn genetic diseases
Developmental and epileptic encephalopathy, 52|Episodic ataxia type 2|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1
not provided|Neurodevelopmental disorder|Inborn genetic diseases|KLF7-related disorder
not provided|Inborn genetic diseases|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Charcot-Marie-Tooth disease axonal type 2O|Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|not provided
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome|not provided
Ectodermal dysplasia and immunodeficiency 1|Incontinentia pigmenti syndrome|Immunodeficiency 33|not provided|Incontinentia pigmenti syndrome
Myofibrillar myopathy 8|not provided
Primary ciliary dyskinesia 7|not provided|Primary ciliary dyskinesia
Adult hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|not provided
not provided|Congenital muscular dystrophy due to LMNA mutation
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypogonadotropic hypogonadism 7 with or without anosmia|not provided|See cases|not specified|POLR3-related leukodystrophy|Inborn genetic diseases|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Inborn genetic diseases|Developmental and epileptic encephalopathy, 32|not provided
See cases|not provided|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy
not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 2D
not provided|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|Inborn genetic diseases
Developmental and epileptic encephalopathy, 58|Inborn genetic diseases|not provided
Intellectual disability|Global developmental delay|Expressive language delay|Hypotonia|Dyssynergia|Inborn genetic diseases|Isolated Pierre-Robin syndrome|Hypotonia, ataxia, and delayed development syndrome|not provided
Shashi-Pena syndrome
Oligosynaptic infertility|46,XY disorder of sex development|46,XY sex reversal 3|not provided|46,XX sex reversal 4
not provided|Developmental and epileptic encephalopathy, 44|Spinocerebellar ataxia, autosomal recessive 24
UBA5-related disorder|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 44|not provided|Developmental and epileptic encephalopathy, 44|Spinocerebellar ataxia, autosomal recessive 24
not provided|Generalized epilepsy-paroxysmal dyskinesia syndrome
FLG-related disorder|Dermatitis, atopic, 2|not provided|Ichthyosis vulgaris
not provided|not specified|Autosomal recessive limb-girdle muscular dystrophy type 2Y
Failure to thrive|Global developmental delay|Inborn genetic diseases|not provided|See cases|ZTTK syndrome
Curry-Jones syndrome
ADSS1-related disorder|Myopathy, distal, 5|not provided
Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|not provided|Cardiovascular phenotype
Neurodevelopmental disorder with hypotonia, seizures, and absent language
not provided|CRELD1-related disorder|Atrioventricular septal defect, susceptibility to, 2
Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|not specified|not provided|Autoinflammatory syndrome|Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|NLRP3-related disorder
not provided|Autosomal recessive spastic paraplegia type 76
not provided|Adult polyglucosan body disease
Autosomal recessive nonsyndromic hearing loss 89|KARS-related disorder|Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|Charcot-Marie-Tooth disease recessive intermediate B|KARS1-related disorder
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|Cardiac arrhythmia|Seizure|Acute rhabdomyolysis|Episodic flaccid weakness|Intellectual disability
Congenital disorder of glycosylation|not provided|ALG1-congenital disorder of glycosylation|Congenital disorder of glycosylation type I|ALG1-related disorder|Encephalopathy
not provided|not specified|Microcephalic primordial dwarfism, Alazami type
Lowry-Wood syndrome|RNU4ATAC-related spliceosomopathies|Roifman syndrome|Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|not provided
Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|RNU4ATAC-related disorder|Roifman syndrome|not provided
Roifman syndrome|Osteodysplastic primordial dwarfism, type 1|Lowry-Wood syndrome|Roifman syndrome|Intellectual disability|Short stature|not provided
not provided|Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder 4B|Inborn genetic diseases|Peroxisome biogenesis disorder 4A (Zellweger)|Peroxisome biogenesis disorder 4B|Heimler syndrome 2|Peroxisome biogenesis disorder
Autosomal dominant spastic paraplegia type 9|de Barsy syndrome|Cutis laxa, autosomal dominant 3|not provided|ALDH18A1 deficiency|Hereditary spastic paraplegia 9A
not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 6|Pontoneocerebellar hypoplasia
Inborn genetic diseases|not provided|Mitochondrial complex 1 deficiency, nuclear type 21
Menkes kinky-hair syndrome|Cutis laxa, X-linked
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome|Episodic flaccid weakness|Cardiac arrhythmia|Acute rhabdomyolysis|Intellectual disability|Seizure|not provided
Inborn genetic diseases|Developmental and epileptic encephalopathy, 27|Intellectual disability, autosomal dominant 6|not provided|Intellectual disability, autosomal dominant 6
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome|not provided
POLG-related disorder|Inborn genetic diseases|Progressive sclerosing poliodystrophy|not provided|Mitochondrial DNA depletion syndrome|Primary progressive multiple sclerosis|not specified|POLG-Related Spectrum Disorders
not provided|Progressive myoclonic epilepsy type 3
Inborn genetic diseases|Febrile seizures, familial, 8|Developmental and epileptic encephalopathy, 74|Febrile seizures, familial, 8|Epilepsy, childhood absence 2|Developmental and epileptic encephalopathy, 74|not provided
Inborn genetic diseases|not provided|Methylcrotonyl-CoA carboxylase deficiency|See cases|MCCC2-related disorder|3-methylcrotonyl-CoA carboxylase 2 deficiency
not provided|Wolfram syndrome 1|Type 2 diabetes mellitus|Wolfram syndrome|not specified|WFS1-related disorder|WFS1-Related Spectrum Disorders
not provided|Branched-chain keto acid dehydrogenase kinase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Schaaf-Yang syndrome|not provided|Inborn genetic diseases|Neurodevelopmental delay|See cases|Neurodevelopmental disorder
not provided|HADHA-related disorder|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Familial cancer of breast|Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder
Niemann-Pick disease, type C1
not provided|Salla disease
Polyglucosan body myopathy type 2|not provided|Glycogen storage disease XV|Glycogen storage disease XV|Polyglucosan body myopathy type 2
not provided|Spinocerebellar ataxia type 28
Progressive myoclonic epilepsy type 7|Inborn genetic diseases|not provided
Gorlin syndrome|Hereditary cancer-predisposing syndrome|not provided|PTCH1-related disorder
Retinal dystrophy and obesity
Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-associated neurological disorder|Inborn genetic diseases|not specified|not provided|Alternating hemiplegia of childhood 2
Inborn genetic diseases|Infantile neuroaxonal dystrophy|PLA2G6-associated neurodegeneration|not specified|Iron accumulation in brain|not provided
PLA2G6-associated neurodegeneration|Infantile neuroaxonal dystrophy|Iron accumulation in brain
not provided|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2
See cases|not provided|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly
Paragangliomas 5|Leigh syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Neurodegeneration with ataxia and late-onset optic atrophy|Dilated cardiomyopathy 1GG|Neurodegeneration with ataxia and late-onset optic atrophy|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Dilated cardiomyopathy 1GG|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|not provided|SDHA-related disorder|Pilocytic astrocytoma
Hypomyelinating leukodystrophy 6|not provided|Torsion dystonia 4|Hypomyelinating leukodystrophy 6|Cerebral palsy|Global developmental delay
not provided|Microcephalic primordial dwarfism, Alazami type
Alzheimer disease 3|Frontotemporal dementia|Alzheimer disease 3|Acne inversa, familial, 3|Pick disease
FOXG1 disorder
not provided|Nephronophthisis|Senior-Loken syndrome 5
Methylmalonic acidemia with homocystinuria, type cblX
not provided|Seizure|Intellectual disability|Inborn genetic diseases|ALG13-related disorder|Developmental and epileptic encephalopathy, 36
Xeroderma pigmentosum, group F
Cystic fibrosis|ivacaftor response - Efficacy
FLG-related disorder|Dermatitis, atopic, 2|not provided|Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2
Angioosteohypertrophic syndrome|Hemangiomatosis|Segmental undergrowth associated with capillary malformation|not provided|Familial multiple nevi flammei|Capillary malformation|Sturge-Weber syndrome|Capillary malformation
Mitochondrial complex 1 deficiency, nuclear type 21|not provided|Mitochondrial complex I deficiency|Inborn genetic diseases
Mitochondrial complex 1 deficiency, nuclear type 21|Inborn genetic diseases
not specified|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Tibial muscular dystrophy
Cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|DSP-related arrhythmogenic cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|not provided|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
not provided|Inborn genetic diseases|Hereditary spastic paraplegia|SPG7-related disorder|Hereditary spastic paraplegia 7|Spastic paraparesis|Gait ataxia|Cerebral cortical atrophy|Dysarthria|Spastic Paraplegia, Recessive|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Intellectual disability
Hereditary spastic paraplegia 11
not provided|RASopathy|MAP2K1-related rasopathy-like syndrome
Autoimmune lymphoproliferative syndrome type 4|Acute myeloid leukemia|Cardiofaciocutaneous syndrome 2|Noonan syndrome 3|not provided|KRAS-related RASopathy
Cardiofaciocutaneous syndrome 1
Mitochondrial disease|Sudden cardiac death|Neonatal onset|Infantile onset|Generalized hypotonia|Jaundice|Constipation|Failure to thrive
Roifman syndrome|not provided
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Charcot-Marie-Tooth disease, axonal, type 2EE|MPV17-related mitochondrial DNA maintenance defect|not provided
Progressive myoclonic epilepsy type 3
Inborn genetic diseases|ARID1B-related BAFopathy|not provided|Coffin-Siris syndrome 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Pol III-related leukodystrophy|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|POLR3B-related disorder|not specified|POLR3-related leukodystrophy|not provided|See cases
not provided|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
not provided|Inborn genetic diseases|Floating-Harbor syndrome
Nephronophthisis|Senior-Loken syndrome 5|Retinal dystrophy
Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-A|not provided
Spinocerebellar ataxia type 28
Cardiofaciocutaneous syndrome 4|not provided
SCN2A-related disorder|Epileptic encephalopathy|Seizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|not provided|Infantile spasms|Developmental and epileptic encephalopathy, 11
Inborn genetic diseases|Progressive myositis ossificans|not provided|ACVR1-related disorder|Epicanthus
COPD, severe early onset|Alpha-1-antitrypsin deficiency|Neurodevelopmental disorder|Inborn genetic diseases|not provided|Alpha-1-antitrypsin deficiency|Chronic obstructive pulmonary disease|See cases|SERPINA1-related disorder
Rare genetic deafness|Deafness|Nonsyndromic genetic hearing loss|Palmoplantar keratoderma-deafness syndrome|X-linked mixed hearing loss with perilymphatic gusher|Autosomal dominant nonsyndromic hearing loss 3A|Knuckle pads, deafness AND leukonychia syndrome|Autosomal recessive nonsyndromic hearing loss 1A|Mutilating keratoderma|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome|Ichthyosis, hystrix-like, with hearing loss|Palmoplantar keratoderma-deafness syndrome|Autosomal dominant nonsyndromic hearing loss 3A|Knuckle pads, deafness AND leukonychia syndrome|Autosomal recessive nonsyndromic hearing loss 1A|Mutilating keratoderma|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Ichthyosis, hystrix-like, with hearing loss|Hearing impairment|See cases|not provided
Cockayne syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|not provided|Xeroderma pigmentosum|not specified|Fanconi anemia complementation group Q|XFE progeroid syndrome|Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F|ERCC4-related disorder|Xeroderma pigmentosum, group F|Breast carcinoma
Atopic eczema|Ichthyosis vulgaris|Ichthyosis vulgaris|Dermatitis, atopic, 2|not provided|FLG-related disorder|Ichthyosis vulgaris|Eczematoid dermatitis|Dermatitis, atopic, 2
not provided|Pseudohypoparathyroidism
Anauxetic dysplasia|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia 1|Metaphyseal dysplasia without hypotrichosis|RMRP-related disorder|Metaphyseal chondrodysplasia, McKusick type|not provided
Finnish congenital nephrotic syndrome|Tropical pancreatitis|Hereditary pancreatitis|not provided
Inborn genetic diseases|not provided|Infantile hypophosphatasia|Hypophosphatasia|Childhood hypophosphatasia|Infantile hypophosphatasia|Adult hypophosphatasia|Adult hypophosphatasia|Odontohypophosphatasia|Childhood hypophosphatasia|Osteogenesis imperfecta|Delayed skeletal maturation
Progressive sclerosing poliodystrophy|not provided
Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|POLG-Related Spectrum Disorders|Inborn genetic diseases|Neurodevelopmental delay|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 1|Hereditary spastic paraplegia|POLG-related disorder|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|not provided|Tip-toe gait|Progressive sclerosing poliodystrophy
Noonan syndrome
ATP1A3-associated neurological disorder|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|not provided|Alternating hemiplegia of childhood 2|Dystonia 12
Hyperimmunoglobulin D with periodic fever|Inborn genetic diseases|Autoinflammatory syndrome|not provided|MVK-related disorder|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|not specified
Inborn genetic diseases|Global developmental delay|Developmental regression|not provided|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome|Intellectual disability|MECP2-related disorder|Syndromic X-linked intellectual disability Lubs type
not provided|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Autism, susceptibility to, X-linked 3|Rett syndrome|Syndromic X-linked intellectual disability Lubs type|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|not specified|Severe neonatal-onset encephalopathy with microcephaly
Mitochondrial disease
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
not provided|not specified|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, type IA|Hereditary liability to pressure palsies|Charcot-Marie-Tooth disease, type I
Peroxisome biogenesis disorder 1A (Zellweger)|not specified|Peroxisome biogenesis disorder 1B|Heimler syndrome 1|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|Inborn genetic diseases|Peroxisomal disorder|Heimler syndrome 1|not provided|Zellweger spectrum disorders|Retinal dystrophy|Peroxisome biogenesis disorder 1A (Zellweger)|Peroxisome biogenesis disorder 1B|PEX1-related disorder|Peroxisome biogenesis disorder
ivacaftor response - Efficacy|Cystic fibrosis
Cystic fibrosis
Myopathy|Hyperkalemic periodic paralysis|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|not provided
not provided|Congenital malabsorptive diarrhea 4
NHERF1-related disorder|Hypophosphatemic nephrolithiasis/osteoporosis 2|Chronic kidney disease|not provided
Sanfilippo syndrome|SGSH-related disorder|Mucopolysaccharidosis, MPS-III-A|not provided|Inborn genetic diseases
Inflammatory bowel disease 1|Blau syndrome|not provided|Autoinflammatory syndrome|Yao syndrome
not provided|Autoinflammatory syndrome|Inflammatory bowel disease 1|Yao syndrome|not specified|Blau syndrome|Regional enteritis|Blau syndrome
not provided|SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|SELENON-related myopathy|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|Congenital myopathy 4A, autosomal dominant|Eichsfeld type congenital muscular dystrophy
Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia|SchC6pf-Schulz-Passarge syndrome|Tooth agenesis, selective, 4|Odonto-onycho-dermal dysplasia|Ectodermal dysplasia|Odonto-onycho-dermal dysplasia|Inborn genetic diseases|Tooth agenesis, selective, 4|not provided|Oligodontia|WNT10A-related disorder|Hypohidrotic ectodermal dysplasia|Tooth agenesis, selective, 4|SchC6pf-Schulz-Passarge syndrome
not provided|Mandibuloacral dysplasia with type B lipodystrophy|Lethal tight skin contracture syndrome|ZMPSTE24-related disorder|Mandibuloacral dysplasia with type B lipodystrophy|Lethal tight skin contracture syndrome
FKRP-related disorder|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2I|Cardiovascular phenotype|Myopathy|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Difficulty climbing stairs|Scapular winging|Difficulty standing|Gait imbalance|Headache|Paresthesia|Muscle weakness|Difficulty walking|Muscular dystrophy-dystroglycanopathy type B5|Myopathy caused by variation in FKRP|Limb-girdle muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy
not provided|Alzheimer disease type 1|Myeloperoxidase deficiency|MPO-related disorder|Myeloperoxidase deficiency
Myeloperoxidase deficiency|Alzheimer disease type 1|not provided|Myeloperoxidase deficiency|MPO-related disorder
ACADM-related disorder|Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided
GBE1-related disorder|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Adult polyglucosan body disease|not provided|Glycogen storage disease, type IV|Adult polyglucosan body disease
not provided|Hyaline fibromatosis syndrome
hormonal contraceptives for systemic use response - Toxicity
not provided|Inborn genetic diseases|Phenylketonuria
