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Definition

A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.

Acronym

SPDRS

Synonyms

AIES
Amish infantile epilepsy syndrome
Epilepsy syndrome infantile-onset symptomatic
GM3 synthase deficiency
Salt and pepper mental retardation syndrome

Keywords

Epilepsy
Mental retardation