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DO Term : neurodevelopmental disorder with midbrain and hindbrain malformations [DOID:0080312] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.
  • synonyms:
  • 617523,
  • OMIM:617523,
  • NEDMHM
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents