Gillespie syndrome
medical condition
Press Enter · cited answer in seconds
0 sources
Summary
Gillespie syndrome is a class of disease[1]. It ranks in the top 7% of class of disease entities by monthly Wikipedia readership (176 views/month).[2]
Key Facts
- Subclass of: aniridia[3], cerebellar ataxia[4], genetic syndromic intellectual disability[5], syndromic glaucoma[6], syndromic aniridia[7], syndrome[8], autosomal genetic disease[9], developmental defect during embryogenesis[10]
- Prevalence: 0.000001[11]
- ICD-9-CM: 759.89[12]
- Genetic association: ITPR1[13], PAX6[14]
- Age of onset: infantile onset[15], neonatal onset[16]
- Exact match: http://www.orpha.net/ORDO/Orphanet_1065[17], http://purl.obolibrary.org/obo/DOID_0111578[18], http://identifiers.org/doid/DOID:0111578[19]
- Has phenotype: moderate mental retardation[20], Q141815625[21], Q141815755[22], Severe mental retardation[23], global developmental delay[24], hypotonia[25], speech disorder[26], movement disorders[27], Q141815312[28]
- P14914: D01065[29]
Why It Matters
Gillespie syndrome is known by 7 alternative names across languages and contexts.[30]