Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Disease ID: disease_node_16371
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| Dbxref | MIM:615286 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | autosomal recessive mental retardation 36 |
| Doid Label | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. |
| Disease Node Id | disease_node_16371 |
| Doid Id | DOID_0081099 |
| Label | Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)