Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Disease ID: disease_node_16376
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| Dbxref | MIM:620428 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Doid Label | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. |
| Existence Starts During | HP_0003593, HP_0011463 |
| Disease Node Id | disease_node_16376 |
| Doid Id | DOID_0081387 |
| Label | Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)