Conditions / Syndrome
Coffin-Siris syndrome 4
info · Syndrome
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Signs and symptoms
- Short phalanx of the 5th toe
- Hypertrichosis
- Intellectual disability
- Global developmental delay
- Short 5th finger
- Thick lower lip vermilion
- Long eyelashes
- Microcephaly
- Thick eyebrow
- Ptosis
Also known as: CSS4; MRD16; autosomal dominant mental retardation 16