Name
1p13.3 deletion syndrome
ABCA2-related disorder
ACOX1-related disorder
ADCY2-related disorder
ADGRV1-related myoclonic epilepsy
AGTPBP1-related disorder
AIFM1-related hypomyelination with spondylometaphyseal dysplasia
ARX-associated condition
ATAD3 gene cluster related condition
ATP5F1A-related disorder
ATP5PO-related disorder
AXIN2-related disorder
Adult hypophosphatasia
BAP1-associated neurodevelopmental disorder
BICRA-related disorder
BLK-related disorder
Bone mineral density quantitative trait locus 18
CACNA1A-related disorder
CACNA1C-related disorder
CDH2-related disorder
CDK19-related disorder
CDKL5-related disorder
CHRNA3-related disorder
COPB2-related disorder
CRELD1-related disorder
CTNNA1-associated FEVR
Cerebellar atrophy
Congenital titinopathy
DAGLA-related disorder
DHX9-related disorder
DNM1L-related movement disorder
DOHH-related disorder
DONSON-related Meier-Gorlin syndrome
DROSHA-related neurodevelopmental disorder
DSP-related arrhythmogenic cardiomyopathy
Decreased activity of mitochondrial ATP synthase complex
Diarrhea
EIF2AK1-related disorder
EIF2AK2-related disorder
ELFN1-related disorder
EVI5-related disorder
EZH1-related disorder
FAM177A1-related disorder
FBN2-related disorder
FLNA-related disorder
GABRA3-related disorder
GDF11-associated multiple congenital anomalies and ID
GET4-related disorder
GLYR1-related disorder
GNB2-related disorder
GP130-deficient hyper-IgE syndrome
Glutamine related condition
H3F3A-related disorder
HNRNPA1-related multisystem proteinopathy
IFIH1-related immunodeficiency
IQGAP1-associated immune condition
IRF2BPL-related disorder
Impaired Hearing
Increased susceptibility to fractures
KARS1-related disorder
KCNC2-related disorder
KDR-related disorder
KIF21A-related disorder
KIF5B-related osteogenesis imperfecta syndrome
KLF7-related disorder
KMT2C-related disorder
KRAS-related RASopathy
LMNA-associated condition
LONP1-related disorder
MADD-related disorder
MAP2K1-related rasopathy-like syndrome
MAP3K20-related disorder
MAPK8IP3-related disorder
MAST3-related disorder
MED12-related disorder
MIR145-related multisystemic smooth muscle dysfunction
MORC2-related developmental disorder
MPEG1-related immunodeficiency
MPV17-related mitochondrial DNA maintenance defect
MT-TK-related disorder
MTOR-related megalencephaly and pigmentary mosaicism in skin
MTSS2-related neurodevelopmental disorder
MYBPC1-related disorder
MYCBP2-related disorder
Motor neuropathy
NAV2-related neurodevelopmental condition
NBEA-related developmental delay and generalized epilepsy
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)
NOTCH1-related disorder
NSD2-related disorder
NUDT2-associated condition
ORC3-related disorder
PAPSS1-related disorder
PHACTR1-related neurodevelopmental condition
PIGQ-related disorder
PIP5K1C-related neurodevelopmental disorder
POLG-related disorder
PPFIA3-related disorder
PPP5C-related disorder
PRDM16-related congenital heart disease
PRELP-related osteosclerosis
PRKAR1B-related neurodevelopmental disorder
PRNP-associated condition
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Predisposition to dissection
RAB5B-associated surfactant dysfunction disorder
RAB5C-related disorder
RNF2-associated neurodevelopmental condition
RNH1-related disorder
RPA1-related short telomere syndrome
RRAGD-related disorder
SARS2-associated condition
SCN2A-related disorder
SEPHS1-related disorder
SLC25A42-related mitochondrial encephalomyopathy
SLC25A46-associated optic atrophy spectrum disorder
SMARCC2-related disorder
SPOP-related disorder
SPOP-related neurodevelopmental condition
SPTBN1-related disorder
SPTBN1-related neurodevelopmental disease
SPTSSA-related disorder
SREBF2-related disorder
STAG2-related disorder
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy
TBX2-related disorder
TMEM161B-related lissencephaly
TMEM94-related disorder
TNPO2-related disorder
TNXB-related hypermobile Ehlers-Danlos syndrome
TOMM70-related neurodevelopmental disorder
TONSL-related disorder
TRIM8-related epileptic encephalopathy
TRIP12 associated autism with facial dysmorphology
TSPEAR-related disorder of tooth and hair follicle morphogenesis
UNC45A-associated Cholestasis
USP7-related disorder
WHSC1-related disorder
Wolf-Hirschhorn like syndrome
ZBTB47-related disorder
ZNF292-related neurodevelopmental condition
ZNF331 deletion
ZNF865-related disorder
not specified