autosomal dominant intellectual developmental disorder 22

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44.

Signs and symptoms

• Short stature
• Fetal pyelectasis
• Generalized non-motor (absence) seizure
• Gastroesophageal reflux
• Short palpebral fissure
• Severe intellectual disability
• Proportionate short stature
• Stereotypical hand wringing
• Highly arched eyebrow
• Bruxism

Also known as: MRD22; autosomal dominant mental retardation 22; autosomal dominant non-syndromic intellectual disability 22