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neurodevelopmental disorder with midbrain and hindbrain malformations
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0080312
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
