Disease

neurodevelopmental disorder with eye movement abnormalities and ataxia

Definition

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.

Synonyms

NEDEMA

Cross References

MIM:620094

Parent Terms

autosomal dominant intellectual developmental disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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