autosomal dominant intellectual developmental disorder 23

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3.

Signs and symptoms

• Long philtrum
• Bulbous nose
• Downturned corners of mouth
• Intellectual disability
• Wide nasal bridge
• Delayed ability to walk
• Global developmental delay
• Low anterior hairline
• Delayed speech and language development
• Upslanted palpebral fissure

Also known as: MRD23; autosomal dominant mental retardation 23; autosomal dominant non-syndromic intellectual disability 23