Microcephaly And Chorioretinopathy 1
Disease ID: disease_node_20317
Connections displayed (default: 10).
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| Dbxref | MIM:251270 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | microcephaly and chorioretinopathy 1 |
| Doid Description | A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20317 |
| Doid Id | DOID_0080105 |
| Label | Microcephaly And Chorioretinopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)