autosomal dominant intellectual developmental disorder 57

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Upslanted palpebral fissure
• Motor delay
• Delayed speech and language development
• Ptosis
• Pointed chin
• Epicanthus
• Strabismus
• Short stature