Coffin-Siris syndrome 1

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Delayed ability to walk
• Hypotonia
• Thin upper lip vermilion
• Broad nasal tip
• Myopia
• Astigmatism
• Prominent fingertip pads
• Renal hypoplasia

Also known as: CSS1; MRD12; autosomal dominant mental retardation 12; fifth digit syndrome