Disease gene | Disease phenotype | OMIM# | Publication |
---|---|---|---|
EBF3 | Hypotonia, ataxia, and delayed development syndrome | #617330 | [21] |
NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | #617393 | [22] |
CACNA1A | Infantile developmental delay, ataxia | N/A | [23] |
ATP5F1D | Mitochondrial complex V (ATP synthase) deficiency | #618120 | [24] |
TBX2 | Vertebral anomalies and variable endocrine and T-cell dysfunction | #618223 | [25] |
IRF2BPL | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | #618088 | [26] |
NR5A1 | 46, XX sex reversal | #617480 | [11] |
COG4 | Saul-Wilson Syndrome | #618150 | [27] |
TONSL | Spondyloepimetaphyseal dysplasia, sponastrime type | #271510 | [28] |
WDR37 | Neurooculocardio-genitourinary syndrome | #618652 | [29] |
ACOX1 | Schwann cell and axonal loss | #618960 | [30] |
TOMM70* | Hypotonia, hyperreflexia, ataxia, dystonia, and white matter abnormalities | N/A | [31] |
CDK19* | Epileptic encephalopathy | #618916 | [32] |
YPEL3 | Cerebral hypomyelination, abnormal peripheral nerve conduction, hypotonia, areflexia, and hypertrophic peripheral nerves | N/A | [33] |
BICRA | Neurodevelopmental disorder with intellectual disability, autism, and dysmorphic facial features | N/A | [34] |
COPB2 | Osteoporosis, fractures, and developmental delay | N/A | [35] |
RNF2 | Intellectual disability, seizures, and dysmorphic features | N/A | [36] |