C0795934_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively.
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