Developmental delay, intellectual disability and seizures are presentations of DEE80. Some individuals affected show dysmorphic features, deafness, visual impairment, hands and feet anomalies (triphalangeal thumb, brachytelephalangy, and hypoplastic nails) and neurological abnormalities (axonal degenerative polyneuropathy and demyelinating sensorimotor polyneuropathy). Metabolic anomalies such as elevated serum alkaline phosphatase and 2-oxoglutaric aciduria can also be found.
PIGB