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DO Term : neurodevelopmental disorder with speech impairment and dysmorphic facies [DOID:0070417] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.
  • synonyms:
  • OMIM:619056,
  • 619056,
  • NEDSID
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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