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Definition

An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present.

Acronym

NNMS

Synonyms

Chondrodysplasia-pseudohermaphroditism syndrome

Keywords

Dwarfism

 
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