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Definition

An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones.

Acronym

SEMDG

Synonyms

NANS deficiency
SEMD Genevieve type

Keywords

Dwarfism
Mental retardation

 
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