label: Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy
label_lc: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
description: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.