Cerebellar Hyplasia/Atrophy, Epilepsy, And Global Developmental Delay
Disease ID: disease_node_16534
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| Dbxref | MIM:213000, ORDO:2246 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Disease Has Feature | DOID_1059 |
| Doid Label | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay |
| Doid Description | A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. |
| Has Symptom | SYMP_0000338 |
| Disease Node Id | disease_node_16534 |
| Doid Id | DOID_0070339 |
| Label | Cerebellar Hyplasia/Atrophy, Epilepsy, And Global Developmental Delay |
- Outgoing r'ship
HAS_SYMPTOMto/from Nystagmus(ID:disease_node_21708) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)