Conditions / Syndrome
Simpson-Golabi-Behmel syndrome type 2
info · Syndrome
A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.
Signs and symptoms
- Severe intellectual disability
- Short finger
- Inguinal hernia
- Recurrent lower respiratory tract infections
- Postaxial hand polydactyly
- Global developmental delay
- Hypotonia
- Broad thumb
- Ventriculomegaly
- High palate