This syndrome consists of a number of typical features. These include * Agenesis of the corpus callosum (80–99% patients) * Hypopigmentation of the eyes and hair (80–99% patients) * Cardiomyopathy (80–99% patients) * Combined immunodeficiency (80–99% patients) * Muscular hypotonia (80–99% patients) * Abnormality of retinal pigmentation (80–99% patients) * Recurrent chest infections (80–99% patients) * Abnormal EEG (80–99% patients) * Intellectual disability (80–99% patients) * Cataracts (75%) * Seizures (65%) * Renal abnormalities (15%) Infections of the gastrointestinal and urinary tracts are common. Swallowing and feeding difficulties early on may result in a failure to thrive. Optic nerve hypoplasia, nystagmus and photophobia may occur. Facial dysmorphism (cleft lip/palate and micrognathia) and syndactyly may be present. Sensorineural hearing loss may also be present. Death in infancy is not uncommon and is usually due to cardiac complications or severe infections.
Vici syndrome
WAGR syndrome
TEMPI syndrome
Fryns-Aftimos syndrome
MERRF syndrome
Franceschetti–Klein syndrome
MELAS syndrome
STAR syndrome