PPM-X syndrome
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.
Resources
Frequently asked questions
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