X-Linked Mental Retardation Gustavson Type
Disease ID: disease_node_13597
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| Dbxref | GARD:5611, MIM:309555, ORDO:3078 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | mental retardation with optic atrophy, deafness and seizures |
| Doid Label | X-linked mental retardation Gustavson type |
| Doid Description | A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_13597 |
| Doid Id | DOID_0081123 |
| Label | X-Linked Mental Retardation Gustavson Type |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)