Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Disease ID: disease_node_16375
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| Dbxref | MIM:617913 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | NEDMCR syndrome |
| Doid Label | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. |
| Disease Node Id | disease_node_16375 |
| Doid Id | DOID_0081263 |
| Label | Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)