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Disease association ontology term - MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Term summary

ID
MONDO:0013266
Name
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Ontology or CV name
Disease association
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.

Parents

Annotation

Disease association

MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

References:

Genes: