Macrocephaly-intellectual disability-autism syndrome

Definition

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Disease data

Classification

Disease

ORPHA code

210548

OMIM code

605309

ICD10 code

Q87.8

ICD11 code

*Soruce