intellectual developmental disorder with ocular anomalies and distinctive facial features

A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_m

A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22.

Signs and symptoms

• Epicanthus
• Narrow forehead
• Upslanted palpebral fissure
• Mild intellectual disability
• Global developmental delay
• Autistic behavior
• Nystagmus
• Sensorineural hearing impairment
• Microcephaly
• Ptosis

Also known as: IDDOF; MTSS2-related neurodevelopmental disorder