Orphanet: Microcephaly corpus callosum and cerebellar vermis hypoplasia facial dysmorphism intellectual disability syndrom

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Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.

ORPHA:500159

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Childhood
ICD-10: Q87.0
OMIM: 617751
UMLS: C4540321
MeSH: -
GARD: -
MedDRA: -

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Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

ORPHA:500159

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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