autosomal dominant intellectual developmental disorder 72

An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic

An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.

Signs and symptoms

• Global developmental delay
• Delayed speech and language development
• Mild intellectual disability
• Deeply set eye
• Bulbous nose
• Autistic behavior
• Delayed ability to walk
• Overfriendliness
• Thin upper lip vermilion
• Obesity