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DO Term : developmental delay, dysmorphic facies, and brain anomalies [DOID:0060933] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.
  • synonyms:
  • DEVDFB,
  • OMIM:620535,
  • 620535
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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