Mondo Description Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
Uniprot Description A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111781
GARD:0003203
MESH:C537179
OMIM:311510
Orphanet:2379
SCTID:716107009
UMLS:C0796195
MONDO:0010709
High level summary of knowledge for a disease, including descriptions and datasource references.