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Definition

An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip.

Acronym

SKDEAS

Synonyms

Intellectual disability with seizures, abnormal gait, and distinctive facial features

Keywords

Mental retardation