Search Ontology:
Human Disease

neurodevelopmental disorder with midbrain and hindbrain malformations

Term ID
DOID:0080312
Synonyms
  • NEDMHM
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/28453519
References
Ontology
Human Disease   ( DOID:0080312 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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