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DO Term : neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities [DOID:0081387] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36.
  • synonyms:
  • OMIM:620428,
  • 620428
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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