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DO Term : neurodevelopmental disorder with eye movement abnormalities and ataxia [DOID:0081275] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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,
  • OMIM:620094,
  • 620094
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents