Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Disease ID: disease_node_16472
Connections displayed (default: 10).
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| Dbxref | MIM:619480 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | NEDDFAC |
| Doid Label | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
| Doid Description | An autosomal domit intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. |
| Disease Node Id | disease_node_16472 |
| Doid Id | DOID_0070469 |
| Label | Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)