Xia-Gibbs Syndrome

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.

Signs and symptoms

Poor head control
Astigmatism
Lambdoidal craniosynostosis
Upper airway obstruction
Coronal craniosynostosis
Nystagmus
Hyperactivity
Abnormality of the head
Constipation
Babinski sign

Also known as: MRD25; autosomal dominant mental retardation 25