Conditions / Syndrome
Noonan syndrome-like disorder with loose anagen hair 2
info · Syndrome
A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23.
Signs and symptoms
- Global developmental delay
- Pectus carinatum
- Sparse lateral eyebrow
- Narrow forehead
- Deep philtrum
- Sparse hair
- Ventricular septal defect
- Wide intermamillary distance
- Macrocephaly
- Polyhydramnios