Microcephaly and short stature are each present in four of the patients. Two of the patients had seizures. [meta.org]

• 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]

• 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]

• 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]