Clinical Characteristics

Frequent clinical features include:
absent or limited speech (8/9), severely impaired motor abilities (8/9), intellectual disability (6/7), partial or complete agenesis of the corpus callosum (10/11), involuntary movements and/or stereotypies (7/9), abnormal muscle tone (11/11), oculomotor/vison anomalies (7/9), craniofacial dysmorphism (4/11), and epilepsy (3/9). One individual developed spastic paraplegia in adolescence, without callosal anomalies.