| Main clinical features
|
non-progressive psychomotor retardation, neonatal feeding problems, microcephaly and brain atrophy with severely delayed myelination and recurrent apneas; also severe encephalopathy, hypotonia, microcephaly and retinal dystrophy; dysmorphic features include large ears, a flattened nasal root, prominent forehead, large mouth, abnormal teeth, high arched eyebrows, a short neck
sequential cerebral MRI at age one and two year(s) respectively revealed frontal accentuated brain atrophy and significantly delayed myelination |