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General Information
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| Term |
neurodevelopmental disorder with midbrain and hindbrain malformations |
ID (Ontology) |
DOID:0080312 (Human Disease) |
| 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. |
| Also Known As |
"NEDMHM" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | for disease ribbon | neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | model of | neurodevelopmental disorder with midbrain and hindbrain malformations | 1 |
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Relationships