Intellectual disability‑macrocephaly‑hypotonia‑behavioral abnormalities syndrome


Engelsk navn: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome


Definisjon

A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.

Fra Orphanet

ORPHA: 457279
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

Mer informasjon


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