X-linked intellectual disability-psychosis-macroorchidism syndrome

Orpha code: 3077OMIM code: 300055

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.

Disease data
Classification

Malformation syndrome

Synonyms
Lindsay-Burn syndrome
PPM-X
Zespół Lindsay'a i Burna
PPM-X
ORPHA code
3077
OMIM code
300055
ICD10 code
F71.1
ICD11 code
LD90

No additional description.

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