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intellectual disability-epilepsy-extrapyramidal syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0014952:  intellectual disability-epilepsy-extrapyramidal syndrome
Orphanet:468620: 
UMLS:C4310683: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found