Conditions / Syndrome
Gillespie syndrome
info · Syndrome
A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
Signs and symptoms
- Poor head control
- Inability to walk
- Mild intellectual disability
- Moderate intellectual disability
- Ataxia
- Gastroesophageal reflux
- Imperforate hymen
- Generalized hypotonia
- Depression
- Nystagmus
Also known as: GLSP; aniridia, cerebellar ataxia and mental deficiency; aniridia-cerebellar ataxia-intellectual disability syndrome