Orphanet: Intellectual disability macrocephaly hypotonia behavioral abnormalities syndrome

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Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Disease definition

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.

ORPHA:457279

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Neonatal, Infancy
ICD-10: Q87.8
OMIM: 616355
UMLS: C4225354
MeSH: -
GARD: -
MedDRA: -

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Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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