Conditions / Syndrome
cerebrooculofacioskeletal syndrome 2
info · Syndrome
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
Signs and symptoms
- Kyphoscoliosis
- Microcephaly
- Micropenis
- Cutaneous photosensitivity
- Hearing impairment
- Small scrotum
- Camptodactyly of finger
- Deeply set eye
- Global developmental delay
- Sparse hair