Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Disease ID: disease_node_16502
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:620535 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | DEVDFB |
| Doid Label | developmental delay, dysmorphic facies, and brain anomalies |
| Doid Description | An autosomal domit intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. |
| Disease Node Id | disease_node_16502 |
| Doid Id | DOID_0060933 |
| Label | Developmental Delay, Dysmorphic Facies, And Brain Anomalies |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)