Bladder Small Cell Neuroendocrine Carcinoma
Hereditary breast and ovarian cancer syndrome
Mixed Lobular and Ductal Breast Carcinoma
diffuse large B-cell lymphoma of the central nervous system
rosette-forming glioneuronal tumor of fourth ventricule
Growth Hormone-Producing Pituitary Gland Adenoma
primary melanoma of the central nervous system
Central Nervous System Anaplastic Large Cell Lymphoma
Generalized juvenile polyposis/juvenile polyposis coli
colorectal cancer, hereditary nonpolyposis, type 8
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
small intestinal neuroendocrine tumor G1
small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
nasal cavity and paranasal sinus carcinoma
mucoepidermoid carcinoma of parotid gland
Salivary Gland Basal Cell Adenocarcinoma
nasal cavity and paranasal sinus squamous cell carcinoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Hereditary leiomyomatosis and renal cell cancer
hereditary papillary renal cell carcinoma
hereditary clear cell renal cell carcinoma
carcinoma of liver and intrahepatic biliary tract
combined hepatocellular carcinoma and cholangiocarcinoma
well-differentiated fetal adenocarcinoma of the lung
mature T-cell and NK-cell non-Hodgkin lymphoma
T-cell large granular lymphocyte leukemia
splenic diffuse red pulp small B-cell lymphoma
primary cutaneous marginal zone B-cell lymphoma
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Anaplastic Large Cell Lymphoma, ALK-Negative
precursor B-cell acute lymphoblastic leukemia
refractory anemia with ringed sideroblasts
Chronic Eosinophilic Leukemia, Not Otherwise Specified
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
acute megakaryoblastic leukemia in down syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
sinus histiocytosis with massive lymphadenopathy
Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease
progeroid features-hepatocellular carcinoma predisposition syndrome
breast-ovarian cancer, familial, susceptibility to, 1
Tumor necrosis factor receptor 1 associated periodic syndrome
therapy related acute myeloid leukemia and myelodysplastic syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
sessile serrated polyposis cancer syndrome
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
tumoral calcinosis, hyperphosphatemic, familial, 3
breast-ovarian cancer, familial, susceptibility to, 2
Oligodontia - cancer predisposition syndrome
melanoma, cutaneous malignant, susceptibility to, 10
Pancreatic Small Cell Neuroendocrine Carcinoma
Solid Pseudopapillary Neoplasm of the Pancreas
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Familial atypical multiple mole melanoma syndrome
Xeroderma pigmentosum complementation group C
Ewing sarcoma/peripheral primitive neuroectodermal tumor
Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
Poorly Differentiated Thyroid Gland Carcinoma
Familial papillary or follicular thyroid carcinoma
Follicular Variant Thyroid Gland Papillary Carcinoma
Thyroid Gland Oncocytic Follicular Carcinoma
Congenital bilateral absence of vas deferens
congenital bilateral aplasia of vas deferens from CFTR mutation
bronchiectasis with or without elevated sweat chloride 1
Infantile-onset ascending hereditary spastic paralysis
amyotrophic lateral sclerosis type 2, juvenile
autoimmune lymphoproliferative syndrome type 2A
Spasticity - intellectual disability - X-linked epilepsy
Lissencephaly type 1 due to doublecortin gene mutation
Neonatal intrahepatic cholestasis due to citrin deficiency
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Hereditary cryohydrocytosis with normal stomatin
Microphthalmia with linear skin defects syndrome
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Spondyloepimetaphyseal dysplasia with joint laxity
Progressive familial intrahepatic cholestasis type 3
cholestasis, intrahepatic, of pregnancy 3
Benign recurrent intrahepatic cholestasis type 1
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Autosomal recessive non-syndromic intellectual disability
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Bleeding diathesis due to thromboxane synthesis deficiency
Isolated cytochrome C oxidase deficiency
Combined oxidative phosphorylation defect type 17
Aniridia - cerebellar ataxia - intellectual disability
Familial ocular anterior segment mesenchymal dysgenesis
cerebellar atrophy, developmental delay, and seizures
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive limb-girdle muscular dystrophy type 2N
Qualitative or quantitative defects of alpha-dystroglycan
Monocytopenia with susceptibility to infections
isolated congenital growth hormone deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Short rib-polydactyly syndrome, Majewski type
hypogonadotropic hypogonadism 1 with or without anosmia
Isolated CoQ-cytochrome C reductase deficiency
Xeroderma pigmentosum complementation group D
Primary immunodeficiency due to a defect in adaptive immunity
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Autosomal recessive spastic paraplegia type 76
X-linked thrombocytopenia with normal platelets
Distal myopathy with vocal cord weakness
Growth delay due to insulin-like growth factor type 1 deficiency
Rhizomelic chondrodysplasia punctata type 3
Familial or sporadic hemiplegic migraine
Autosomal dominant spastic paraplegia type 4
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
carbamoyl phosphate synthetase I deficiency disease
Hyperammonemia due to N-acetylglutamate synthetase deficiency
Generalized epilepsy with febrile seizures-plus
Febrile seizure (within the age range of 3 months to 6 years)
developmental and epileptic encephalopathy 94
Early-onset autosomal dominant Alzheimer disease
Ataxia - hypogonadism - choroidal dystrophy
Autosomal recessive spastic paraplegia type 39
Trichomegaly - retina pigmentary degeneration - dwarfism
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Familial hypocalciuric hypercalcemia type 1
congenital heart defects, multiple types, 7
Atrial septal defect, ostium primum type
Microcephaly - seizures - developmental delay
Spinocerebellar ataxia type 1 with axonal neuropathy
Familial hypocalciuric hypercalcemia type 3
Midline interhemispheric variant of holoprosencephaly
Glycogen storage disease due to liver phosphorylase kinase deficiency
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic right ventricular dysplasia
Familial progressive cardiac conduction defect
arrhythmogenic right ventricular dysplasia 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Autosomal dominant progressive external ophthalmoplegia
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Beighton type
hyperpigmentation with or without hypopigmentation, familial progressive
autosomal dominant nonsyndromic hearing loss
Hyperandrogenism due to cortisone reductase deficiency
intellectual disability - sparse hair - brachydactyly
Frontonasal dysplasia with alopecia and genital anomaly
Junctional epidermolysis bullosa, Herlitz type
Generalized junctional epidermolysis bullosa, non-Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Chondrodysplasia - disorder of sex development
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Idiopathic ventricular fibrillation, not Brugada type
Congenital cataracts - facial dysmorphism - neuropathy
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy
Elevated circulating alkaline phosphatase concentration
Hypotrichosis with juvenile macular degeneration
Constitutional mismatch repair deficiency syndrome
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant limb-girdle muscular dystrophy type 1F
Immunodeficiency by defective expression of HLA class 2
Combined pituitary hormone deficiencies, genetic forms
Lethal congenital contracture syndrome type 2
Familial thoracic aortic aneurysm and aortic dissection
Junctional epidermolysis bullosa, non-Herlitz type
Genetic renal or urinary tract malformation
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Cutis gyrata - acanthosis nigricans - craniosynostosis
Familial scaphocephaly syndrome, McGillivray type
Ankyloblepharon - ectodermal defects - cleft lip/palate
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
X-linked Charcot-Marie-Tooth disease type 6
Severe achondroplasia - developmental delay - acanthosis nigricans
Camptodactyly - tall stature - scoliosis - hearing loss
Neurodegeneration with brain iron accumulation
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
Autosomal dominant spastic paraplegia type 31
Genetic central nervous system malformation
Rare hemorrhagic disorder due to a platelet receptor defect
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Verma-Naumoff type
Isolated asymptomatic elevation of creatine phosphokinase
Familial clubfoot with or without associated lower limb anomalies
Familial clubfoot due to PITX1 point mutation
Familial clubfoot due to 5q31 microdeletion
intellectual developmental disorder with or without epilepsy or cerebellar ataxia
gnb5-related intellectual disability-cardiac arrhythmia syndrome
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
coronary artery disease, autosomal dominant 2
Autosomal recessive spastic paraplegia type 46
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Autosomal dominant non-syndromic intellectual disability
periodic fever, immunodeficiency, and thrombocytopenia syndrome
Female infertility due to zona pellucida defect
Primary pigmented nodular adrenocortical disease
Autosomal recessive spastic paraplegia type 15
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
retinitis pigmentosa and erythrocytic microcytosis
Very long chain acyl-CoA dehydrogenase deficiency
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ankyloblepharon filiforme adnatum - cleft palate
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
chronic rhinosinusitis with nasal polyps
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Abnormal cerebral white matter morphology
Combined deficiency of factor V and factor VIII
Malignant migrating partial seizures of infancy
Continuous spikes and waves during sleep
Autosomal dominant nocturnal frontal lobe epilepsy
Cardiomyopathy - hypotonia - lactic acidosis
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Familial idiopathic steroid-resistant nephrotic syndrome
Hyper-IgM syndrome without susceptibility to opportunistic infections
Autosomal recessive spastic paraplegia type 45
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Temperature-sensitive oculocutaneous albinism type 1
Oculocerebral hypopigmentation syndrome, Cross type
X-linked intellectual disability, Nascimento type
X-linked mixed deafness with perilymphatic gusher
hearing impairment and infertile male syndrome
Familial partial lipodystrophy, Dunnigan type
Glycogen storage disease due to phosphoglucomutase deficiency
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Autosomal recessive proximal renal tubular acidosis
Behavioral variant of frontotemporal dementia
Autosomal dominant progressive nephropathy with hypertension
Epidermolysis bullosa simplex due to plakophilin deficiency
Progressive familial intrahepatic cholestasis type 1
adnexal spiradenoma/cylindroma of a sweat gland
Mandibuloacral dysplasia with type B lipodystrophy
Benign adult familial myoclonic epilepsy
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Alpha-thalassemia - X-linked intellectual disability syndrome
spastic paraplegia-severe developmental delay-epilepsy syndrome
Autosomal recessive spastic paraplegia type 54
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy due to dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
congenital disorder of glycosylation type II
Trigonocephaly - short stature - developmental delay
Hereditary hyperferritinemia with congenital cataracts
neurodevelopmental disorder with involuntary movements
Cushing syndrome due to macronodular adrenal hyperplasia
Autosomal dominant optic atrophy, classic type
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to a collagen receptor defect
Familial hypocalciuric hypercalcemia type 2
Frontotemporal dementia with motor neuron disease
polycystic kidney disease 3 with or without polycystic liver disease
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Hereditary sensory and autonomic neuropathy type 1
Familial renal amyloidosis due to lysozyme variant
Autosomal dominant Charcot-Marie-Tooth disease type 2N
familial cold autoinflammatory syndrome 4
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
autosomal recessive nonsyndromic hearing loss 4
Generalized arterial calcification of infancy
pseudoxanthoma elasticum (inherited or acquired)
Hereditary arterial and articular multiple calcification syndrome
Junctional epidermolysis bullosa - pyloric atresia
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
autoinflammation with arthritis and dyskeratosis
respiratory papillomatosis, juvenile recurrent, congenital
Blepharophimosis - epicanthus inversus - ptosis
ossification of the posterior longitudinal ligament of the spine
Recurrent infection due to specific granule deficiency
Primary hypomagnesemia with secondary hypocalcemia
Autosomal recessive limb-girdle muscular dystrophy type 2A
muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2G
Neurometabolic disorder due to serine deficiency
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
arrhythmogenic right ventricular dysplasia 8
Severe dermatitis-multiple allergies-metabolic wasting syndrome
primary familial polycythemia due to EPO receptor mutation
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Reduced insulin like growth factor binding protein acid labile subunit concentration
Diaphyseal medullary stenosis - bone malignancy
Deaf blind hypopigmentation syndrome, Yemenite type
Familial focal epilepsy with variable foci
Charcot-Marie-Tooth disease axonal type 2CC
amyotrophic lateral sclerosis, susceptibility to, 24
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
autosomal dominant nonsyndromic hearing loss 2A
congenital anomalies of kidney and urinary tract 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Megalencephalic leukoencephalopathy with subcortical cysts
Microcephalic primordial dwarfism, Dauber type
neutropenia, severe congenital, 8, autosomal dominant
Hypohidrotic ectodermal dysplasia with immunodeficiency
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
Hyper-IgM syndrome with susceptibility to opportunistic infections
Combined immunodeficiency due to STK4 deficiency
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Congenital dyserythropoietic anemia type II
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
arhinia, choanal atresia, and microphthalmia
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
X-linked reticulate pigmentary disorder with systemic manifestations
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Deafness - intellectual disability, Martin-Probst type
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombocytopenia with congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type IV
X-linked intellectual disability, Snyder type
Hereditary hypophosphatemic rickets with hypercalciuria
congenital contractures of the limbs and face, hypotonia, and developmental delay
Autosomal recessive limb-girdle muscular dystrophy type 2C
Qualitative or quantitative defects of sarcoglycan
Late infantile neuronal ceroid lipofuscinosis
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Autosomal recessive spastic paraplegia type 35
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type IIb
Adult-onset autosomal recessive cerebellar ataxia
Hyperimmunoglobulinemia D with periodic fever
Pyogenic arthritis - pyoderma gangrenosum - acne
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
Punctate palmoplantar keratoderma type 1
Autosomal recessive spastic paraplegia type 11
Osteopetrosis with renal tubular acidosis
Severe combined immunodeficiency due to IKK2 deficiency
Congenital generalized hypertrichosis, Ambras type
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Hereditary myoclonus - progressive distal muscular atrophy
Leydig cell hypoplasia due to LHB deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Male infertility with teratozoospermia due to single gene mutation
Hemolytic anemia due to glucophosphate isomerase deficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Familial partial lipodystrophy due to AKT2 mutations
Autosomal recessive early-onset inflammatory bowel disease
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Benign concentric annular macular dystrophy
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Elevated circulating glutaric acid concentration
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Severe combined immunodeficiency due to DCLRE1C deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Congenital dyserythropoietic anemia type I
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Non-syndromic male infertility due to sperm motility disorder
Autosomal recessive distal renal tubular acidosis
Generalized congenital lipodystrophy with myopathy
Idiopathic and/or familial pulmonary arterial hypertension
Triphalangeal thumb - polysyndactyly syndrome
Hypoplastic tibiae - postaxial polydactyly
tibia, hypoplasia or aplasia of, with polydactyly
Autosomal dominant limb-girdle muscular dystrophy type 1D
Bilateral microtia - deafness - cleft palate
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Distal hereditary motor neuropathy type 5
Autosomal dominant Charcot-Marie-Tooth disease type 2D
spinal muscular atrophy, infantile, James type
Isolated growth hormone deficiency type IB
Non-acquired isolated growth hormone deficiency
Decreased response to growth hormone stimulation test
Distal hereditary motor neuropathy type 2
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Progressive pseudorheumatoid arthropathy of childhood
lethal congenital glycogen storage disease of heart
Hyperinsulinism due to glucokinase deficiency
Congenital muscular dystrophy, Fukuyama type
Autosomal recessive limb-girdle muscular dystrophy type 2M
Immunodeficiency due to a late component of complements deficiency
Capillary malformation - arteriovenous malformation
Combined immunodeficiency due to DOCK8 deficiency
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Spinocerebellar ataxia with axonal neuropathy type 2
Hypoparathyroidism - deafness - renal disease
Proximal myopathy with extrapyramidal signs
Multisystemic smooth muscle dysfunction syndrome
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
combined oxidative phosphorylation deficiency 33
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Autosomal recessive limb-girdle muscular dystrophy type 2D
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal dominant multiple pterygium syndrome
Hereditary neuropathy with liability to pressure palsies
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
spondyloepimetaphyseal dysplasia, di rocco type
Alpha-B crystallin-related late-onset distal myopathy
skeletal defects, genital hypoplasia, and intellectual disability
type II hypersensitivity reaction disease
Carnitine palmitoyl transferase 1A deficiency
Neurodegenerative syndrome due to cerebral folate transport deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Autosomal dominant severe congenital neutropenia
Microcytic anemia with liver iron overload
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Hereditary continuous muscle fiber activity
Generalized epilepsy - paroxysmal dyskinesia
Glycogen storage disease due to hepatic glycogen synthase deficiency
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Congenital muscular dystrophy, Ullrich type
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Obesity due to melanocortin 4 receptor deficiency
Obesity due to pro-opiomelanocortin deficiency
Rhizomelic chondrodysplasia punctata type 1
dyskinesia, limb and orofacial, infantile-onset
Patterned dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
Short stature due to partial GHR deficiency
MSH3-related attenuated familial adenomatous polyposis
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
adult acute respiratory distress syndrome
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Generalized dominant dystrophic epidermolysis bullosa
Hereditary motor and sensory neuropathy, Okinawa type
Autosomal recessive spastic paraplegia type 57
Glycogen storage disease due to glycogen branching enzyme deficiency
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome, hepatocerebral form
Combined immunodeficiency due to ZAP70 deficiency
Severe congenital hypochromic anemia with ringed sideroblasts
autosomal recessive nonsyndromic hearing loss 9
complex cortical dysplasia with other brain malformations
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Distal hereditary motor neuropathy type 7
Cataract - intellectual disability - hypogonadism
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Agnathia - holoprosencephaly - situs inversus
Congenital nephrotic syndrome, Finnish type
Autosomal recessive spastic paraplegia type 63
intellectual disability, autosomal dominant 52
Obesity due to leptin receptor gene deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Hereditary motor and sensory neuropathy type 6
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Rhizomelic chondrodysplasia punctata type 2
Medium chain acyl-CoA dehydrogenase deficiency
mitochondrial complex II deficiency, nuclear type 1
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Methylmalonic acidemia with homocystinuria, type cblC
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate
cleft palate with or without ankyloglossia, X-linked
Diarrhea-vomiting due to trehalase deficiency
Autosomal dominant optic atrophy and cataract
Lethal arthrogryposis - anterior horn cell disease
Lethal congenital contracture syndrome type 1
erythrokeratodermia variabilis et progressiva 4
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Tall stature-intellectual disability-facial dysmorphism syndrome
Free sialic acid storage disease, infantile form
Parietal foramina with cleidocranial dysplasia
neurodevelopmental disorder with language impairment and behavioral abnormalities
Autosomal dominant limb-girdle muscular dystrophy
autoimmune interstitial lung disease-arthritis syndrome
Late-onset distal myopathy, Markesbery-Griggs type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Short chain acyl-CoA dehydrogenase deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Microphthalmia with brain and digit anomalies
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Sterile multifocal osteomyelitis with periostitis and pustulosis
Hypothyroidism due to TSH receptor mutations
Autosomal dominant spastic paraplegia type 12
Congenital hereditary endothelial dystrophy type I
Syndromic X-linked intellectual disability due to JARID1C mutation
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Nephrogenic syndrome of inappropriate antidiuresis
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
congenital disorder of glycosylation type I
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Distal myopathy with posterior leg and anterior hand involvement
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Mesoaxial synostotic syndactyly with phalangeal reduction
skin and soft tissue Staphylococcus aureus infection
Silver-Russell syndrome due to a point mutation
chronic atrial and intestinal dysrhythmia
autosomal dominant polycystic liver disease
Congenitally uncorrected transposition of the great arteries
intellectual disability, autosomal dominant 9
Autosomal recessive spastic paraplegia type 30
Congenital chronic diarrhea with protein-losing enteropathy
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Congenital cataract microcornea with corneal opacity
congenital heart defects, multiple types, 5
congenital insensitivity to pain-hypohidrosis syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2K
Combined oxidative phosphorylation defect type 7
Autosomal recessive spastic paraplegia type 55
X-linked distal arthrogryposis multiplex congenita
Autosomal dominant Emery-Dreifuss muscular dystrophy
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type b
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Isolated follicle stimulating hormone deficiency
Autosomal recessive spastic paraplegia type 43
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
muscular dystrophy, congenital, with cataracts and intellectual disability
Aromatic L-amino acid decarboxylase deficiency
Epidermolysis bullosa simplex with pyloric atresia
Spinal muscular atrophy with respiratory distress type 1
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal recessive spastic paraplegia type 23
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Congenital muscular dystrophy with intellectual disability
Acute infantile liver failure-multisystemic involvement syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Hereditary sensory and autonomic neuropathy type 5
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Xeroderma pigmentosum complementation group E
Isolated growth hormone deficiency type III
Xeroderma pigmentosum complementation group G
Recurrent upper respiratory tract infections
Fatal multiple mitochondrial dysfunction syndrome
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Congenital muscular dystrophy with integrin alpha-7 deficiency
Autosomal recessive spastic paraplegia type 26
Distal myopathy with anterior tibial onset
Qualitative or quantitative defects of dysferlin
Renal tubular dysgenesis of genetic origin
Hepatic veno-occlusive disease - immunodeficiency
Autosomal recessive multiple pterygium syndrome
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
neuroendocrine cell hyperplasia of infancy
Atrial septal defect, ostium secundum type
Genetic 46,XY disorder of sex development
Xeroderma pigmentosum complementation group A
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Combined oxidative phosphorylation defect type 24
Congenital dyserythropoietic anemia type III
Solitary median maxillary central incisor syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Autosomal recessive spastic paraplegia type 64
Progressive retinal dystrophy due to retinol transport defect
Reticular dystrophy of the retinal pigment epithelium
Familial juvenile hyperuricemic nephropathy type 1
Pulmonary arterial hypertension associated with portal hypertension
Action myoclonus - renal failure syndrome
Congenital fibrosis of extraocular muscles
congenital fibrosis of the extraocular muscles
Mitochondrial myopathy and sideroblastic anemia
Male infertility with spermatogenesis disorder due to single gene mutation
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Autosomal dominant rhegmatogenous retinal detachment
Spondyloperipheral dysplasia - short ulna
Familial avascular necrosis of femoral head
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondylometaphyseal dysplasia, 'corner fracture' type
Vitamin B12-responsive methylmalonic acidemia type cblB
maturity-onset diabetes of the young type 4
46,XY gonadal dysgenesis - motor and sensory neuropathy
Autosomal dominant distal hereditary motor neuropathy
sorbitol dehydrogenase deficiency with peripheral neuropathy
Growth delay due to insulin-like growth factor I resistance
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
Congenital lipoid adrenal hyperplasia due to STAR deficency
Autosomal recessive progressive external ophthalmoplegia
acth-independent macronodular adrenal hyperplasia 2
Hereditary North American Indian childhood cirrhosis
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
Abnormality of cardiovascular system morphology
Glycogen storage disease due to acid maltase deficiency
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
NLRP12-associated hereditary periodic fever syndrome
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Ectodermal dysplasia - syndactyly syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Congenital myopathy with excess of thin filaments
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial hyperreninemic hypoaldosteronism type 1
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
autosomal recessive congenital ichthyosis 4A
epilepsy, hearing loss, and intellectual disability syndrome
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
X-linked intellectual disability, Najm type
X-linked Charcot-Marie-Tooth disease type 5
Lethal ataxia with deafness and optic atrophy
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Autosomal recessive spastic paraplegia type 18
Genetic chronic primary adrenal insufficiency
obesity, hyperphagia, and developmental delay
Porphyria due to ALA dehydratase deficiency
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
46,XY disorder of sex development due to isolated 17,20 lyase deficiency
hereditary angioedema with C1Inh deficiency
preterm premature rupture of the membranes
Generalized resistance to thyroid hormone
Selective pituitary resistance to thyroid hormone
Brain demyelination due to methionine adenosyltransferase deficiency
Arthrogryposis - renal dysfunction - cholestasis
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Hereditary sensory and autonomic neuropathy type 6
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Isolated growth hormone deficiency type IA
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Horizontal gaze palsy with progressive scoliosis
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Congenital enteropathy due to enteropeptidase deficiency
Arthrogryposis with oculomotor limitation and electroretinal anomalies
Hereditary proximal myopathy with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2I
Combined oxidative phosphorylation defect type 11
Early-onset parkinsonism - intellectual disability
Autosomal dominant spastic paraplegia type 10
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Blepharophimosis-intellectual disability syndrome, SBBYS type
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked Charcot-Marie-Tooth disease type 4
intellectual developmental disorder with dysmorphic facies and ptosis
Sinoatrial node dysfunction and deafness
Aldosterone-producing adenoma with seizures and neurological abnormalities
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
X-linked intellectual disability, Stocco Dos Santos type
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Tall stature - scoliosis - macrodactyly of the great toes
Microcephalic osteodysplastic primordial dwarfism type II
Combined immunodeficiency due to CD3gamma deficiency
Autosomal recessive Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Autosomal dominant limb-girdle muscular dystrophy type 1B
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Autosomal codominant severe lipodystrophic laminopathy
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Autosomal dominant osteosclerosis, Worth type
Infantile Bartter syndrome with sensorineural deafness
Nephrosis - deafness - urinary tract - digital malformations
autosomal dominant nonsyndromic hearing loss 7
Posterior column ataxia - retinitis pigmentosa
vertebral, cardiac, renal, and limb defects syndrome 1
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2E
Qualitative or quantitative defects of beta-sarcoglycan
Absence of fingerprints - congenital milia
Xeroderma pigmentosum complementation group B
Fatal multiple mitochondrial dysfunction syndrome type 2
Familial encephalopathy with neuroserpin inclusion bodies
Fatal infantile lactic acidosis with methylmalonic aciduria
Glycogen storage disease due to GLUT2 deficiency
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Glycogen storage disease due to glycogenin deficiency
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Encephalopathy due to sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Atrial septal defect, sinus venosus type
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Glycogen storage disease due to phosphoglycerate mutase deficiency
Autosomal dominant spastic paraplegia type 8
spastic paraplegia 80, autosomal dominant
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Familial hyperthyroidism due to mutations in TSH receptor
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
multiple mitochondrial dysfunctions syndrome 4
Spondyloepimetaphyseal dysplasia - abnormal dentition
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Progeroid and marfanoid aspect-lipodystrophy syndrome
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Combined immunodeficiency with skin granulomas
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
Mitochondrial DNA depletion syndrome, myopathic form
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Immunodeficiency by defective expression of HLA class 1
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple benign circumferential skin creases on limbs
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Congenital bile acid synthesis defect type 3
Neonatal acute respiratory distress with surfactant metabolism deficiency
Autosomal dominant spastic paraplegia type 17
Severe neurodegenerative syndrome with lipodystrophy
Severe intellectual disability-progressive spastic diplegia syndrome
Cone dystrophy with supernormal rod response
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Methylmalonic acidemia with homocystinuria, type cblD
Chronic respiratory distress with surfactant metabolism deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2S
X-linked intellectual disability - psychosis - macroorchidism
Severe neonatal-onset encephalopathy with microcephaly
syndromic X-linked intellectual disability Lubs type
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Autosomal dominant spastic paraplegia type 42
Hereditary sensory and autonomic neuropathy type 4
X-linked Charcot-Marie-Tooth disease type 1
Autosomal recessive axonal neuropathy with neuromyotonia
Fatal multiple mitochondrial dysfunction syndrome type 1
Autosomal dominant spastic paraplegia type 6
Autosomal recessive limb-girdle muscular dystrophy type 2F
Qualitative or quantitative defects of delta-sarcoglycan
arrhythmogenic right ventricular dysplasia 5
Autosomal recessive isolated optic atrophy
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Autosomal recessive limb-girdle muscular dystrophy type 2L
Non-progressive cerebellar ataxia with intellectual disability
severe combined immunodeficiency due to CTPS1 deficiency
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Methylmalonic acidemia with homocystinuria, type cblX
Autosomal recessive spastic paraplegia type 5A
Pyogenic bacterial infections due to MyD88 deficiency
X-linked intellectual disability, Siderius type
immunodeficiency due to a classical component pathway complement deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2P
Pyruvate carboxylase deficiency, severe neonatal type
Spectrin-associated autosomal recessive cerebellar ataxia
Resistance to thyrotropin-releasing hormone syndrome
Cortical dysplasia - focal epilepsy syndrome
Obesity due to congenital leptin deficiency
Microcephalic primordial dwarfism, Alazami type
Hypotonia with lactic acidemia and hyperammonemia
Intellectual disability - craniofacial dysmorphism - cryptorchidism
Obesity due to prohormone convertase I deficiency
Xeroderma pigmentosum complementation group F
cone-rod synaptic disorder syndrome, congenital nonprogressive
susceptibility to partial acquired lipodystrophy
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Facial dysmorphism - immunodeficiency - livedo - short stature
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Epidermolysis bullosa simplex with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Combined oxidative phosphorylation defect type 4
corticosterone methyloxidase type 2 deficiency
GATA2 deficiency with susceptibility to MDS/AML
Congenital muscular dystrophy without intellectual disability
Pili torti - developmental delay - neurological abnormalities
Intellectual disability - cataracts - calcified pinnae - myopathy
X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
Progressive epilepsy - intellectual disability, Finnish type
Autosomal dominant limb-girdle muscular dystrophy type 1C
Qualitative or quantitative defects of caveolin-3
brain abnormalities, neurodegeneration, and dysosteosclerosis
Atrial septal defect - atrioventricular conduction defects
Stapes ankylosis with broad thumbs and toes
Hereditary thrombophilia due to congenital protein S deficiency
thrombophilia due to protein S deficiency, autosomal dominant
STING-associated vasculopathy with onset in infancy
Blepharophimosis-intellectual disability syndrome, MKB type
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Sodium channelopathy-related small fiber neuropathy
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Epidermolysis bullosa simplex with mottled pigmentation
Lethal congenital contracture syndrome type 3
Progressive supranuclear palsy - parkinsonism
Deafness with labyrinthine aplasia, microtia, and microdontia
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Sudden infant death - dysgenesis of the testes
Congenital multicore myopathy with external ophthalmoplegia
Moderate multiminicore disease with hand involvement
congenital myopathy with myasthenic-like onset
muscular dystrophy, limb-girdle, autosomal recessive 23
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
cognitive impairment with or without cerebellar ataxia
Terminal osseous dysplasia - pigmentary defects
interstitial lung disease specific to childhood
Multiple congenital anomalies - hypotonia - seizures syndrome
Joubert syndrome with orofaciodigital defect
Encephalopathy due to prosaposin deficiency
Recurrent Neisseria infections due to factor D deficiency
Autosomal recessive spastic paraplegia type 7
PLCG2-associated antibody deficiency and immune dysregulation
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Severe combined immunodeficiency due to CARD11 deficiency
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Autosomal dominant spastic paraplegia type 3
catecholaminergic polymorphic ventricular tachycardia 1
thrombophilia due to activated protein C resistance
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Isolated focal cortical dysplasia type IIa
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Autosomal recessive spastic paraplegia type 44
Autosomal dominant optic atrophy plus syndrome
Familial infantile bilateral striatal necrosis
Hydrocephalus with stenosis of the aqueduct of Sylvius
Qualitative or quantitative defects of dystrophin
Keratoderma hereditarium mutilans with ichthyosis
Hypotrichosis - lymphedema - telangiectasia
Multicentric carpo-tarsal osteolysis with or without nephropathy
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
chromosome 17P13.3, telomeric, duplication syndrome
heterotaxy, visceral, 9, autosomal, with male infertility
Retinal vasculopathy and cerebral leukodystrophy
Autosomal recessive systemic lupus erythematosus
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Severe intellectual disability and progressive spastic paraplegia
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen
Constitutional megaloblastic anemia with severe neurologic disease
Congenital bile acid synthesis defect type 2
Autosomal recessive spastic paraplegia type 48
Immunodeficiency due to a complement cascade protein anomaly
Autosomal recessive spastic ataxia with leukoencephalopathy
Lower motor neuron syndrome with late-adult onset
autosomal dominant mitochondrial myopathy with exercise intolerance
Severe combined immunodeficiency due to DNA-PKcs deficiency
Prader-Willi syndrome due to point mutation
Short stature due to growth hormone qualitative anomaly
Isolated growth hormone deficiency type II
Syndactyly - telecanthus - anogenital and renal malformations
Microcephalic osteodysplastic primordial dwarfism types I and III
polyhydramnios, megalencephaly, and symptomatic epilepsy
Combined immunodeficiency due to ORAI1 deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2E
encephalopathy, progressive, with amyotrophy and optic atrophy