Hypotonia, Ataxia, And Delayed Development Syndrome
Disease ID: disease_node_20164
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617330 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Doid Label | hypotonia, ataxia, and delayed development syndrome |
| Doid Description | A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20164 |
| Doid Id | DOID_0081176 |
| Label | Hypotonia, Ataxia, And Delayed Development Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)