Conditions / Syndrome
Bardet-Biedl syndrome 22
info · Syndrome
A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
Signs and symptoms
- Microcephaly
- Delayed speech and language development
- Large for gestational age
- Polyphagia
- Polydactyly
- Visual impairment
- Postaxial foot polydactyly
- Rod-cone dystrophy
- Hypogonadism
- Macrocephaly