Arboleda-Tham syndrome

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.

Signs and symptoms

Gait imbalance
Highly arched eyebrow
Microcephaly
Long thorax
Wide intermamillary distance
Delayed ability to sit
Intellectual disability
Primary microcephaly
Sparse medial eyebrow
Narrow chest

Also known as: ARTHS; MRD32; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant mental retardation 32; autosomal dominant non-syndromic intellectual disability 32