Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Disease ID: disease_node_16366
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617523 |
|---|---|
| Subclassof | DOID_0050888, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NEDMHM |
| Doid Label | neurodevelopmental disorder with midbrain and hindbrain malformations |
| Doid 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. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16366 |
| Doid Id | DOID_0080312 |
| Label | Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)