PPM-X syndrome

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Alternate names

Intellectual deficit, X-linked - psychosis - macroorchidism; MRXS13

Definition

An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.

NIH genetic and rare disease info

PPM-X syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - PPM-X syndrome

A-Z list of rare diseases
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PPM-X syndrome

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