autosomal dominant intellectual developmental disorder 39

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.

Signs and symptoms

• Strabismus
• Intellectual disability
• Wide mouth
• Delayed speech and language development
• Wide nasal bridge
• Delayed ability to walk
• Global developmental delay
• Delayed gross motor development
• Wide nasal base
• Neonatal hypotonia

Also known as: MRD39; autosomal dominant mental retardation 39; autosomal dominant non-syndromic intellectual disability 39