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DO Term : Stolerman neurodevelopmental syndrome [DOID:0081443] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13.
  • synonyms:
  • OMIM:618505,
  • 618505
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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