Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Disease ID: disease_node_16532
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| Dbxref | MIM:617755 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | NEDDFL |
| Doid Label | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| Doid Description | An autosomal domit intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. |
| Disease Node Id | disease_node_16532 |
| Doid Id | DOID_0070514 |
| Label | Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)