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DO Term : neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities [DOID:0070815] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21.
  • synonyms:
  • 621182,
  • OMIM:621182,
  • UMLS_CUI:C6012716,
  • NEDSFB
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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