Aniridia, ataxia and intellectual disability.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurogenetics; Ophthalmology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- ITPR1
- Alternative names & eponyms
- Gillespie syndrome
Etiology & mechanism
ITPR1 mutations.
Gene(s) involved (1)
Symptoms & signs (3)
In plain terms, someone with Gillespie syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Marinesco–Sjögren syndrome
cerebellar ataxia, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Cardiofaciocutaneous syndrome
intellectual disability
1 shared
Coffin–Lowry syndrome
intellectual disability
1 shared
Coffin–Siris syndrome
intellectual disability
1 shared
Cohen syndrome
intellectual disability
Shares genes with
None.
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