Neurodevelopmental Disorder With Hypotonia And Speech Delay
Disease ID: disease_node_17040
Connections displayed (default: 10).
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| Dbxref | MIM:620455 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID |
| Synonyms | NEDHSS |
| Doid Label | neurodevelopmental disorder with hypotonia and speech delay |
| Doid Description | A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_17040 |
| Doid Id | DOID_0070512 |
| Label | Neurodevelopmental Disorder With Hypotonia And Speech Delay |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease)