Presentation
Microcephaly and short stature are each present in four of the patients. Two of the patients had seizures. [meta.org]
Entire Body System
- Disability
Loss-of-function mutations of STXBP1 have also been identified in some patients with intellectual disability without epilepsy. [sparrho.com]
- Epilepsy
Loss-of-function mutations of STXBP1 have also been identified in some patients with intellectual disability without epilepsy. [meta.org]
- Short Stature
Microcephaly and short stature are each present in four of the patients. Two of the patients had seizures. [sparrho.com]
Eyes
- Strabismus
Their common clinical features include intellectual disability, psychomotor developmental delay with delayed or absent speech, muscular hypotonia, and strabismus. Microcephaly and short stature are each present in four of the patients. [sparrho.com]
Neurologic
- Ataxia
Ataxia Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here. [meta.org]