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DO Term : neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies [DOID:0081099] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.
  • synonyms:
  • OMIM:615286,
  • autosomal recessive mental retardation 36,
  • 615286
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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