Global developmental delay, intellectual disability, hypotonia, ataxia and seizures are presentations of DEE95. Some individuals affected show dysmorphic features (coarse facial features, arched eyebrows, thickened helices, broad tongue, gingival hypertrophy), visual impairment (nystagmus, cortical blindness), hands and feet anomalies (brachydactyly, fifth-finger clinodactyly), pectus carinatum, joint laxity and scoliosis.
PIGS