Conditions / Syndrome
cerebrooculofacioskeletal syndrome 1
info · Syndrome
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
Signs and symptoms
- Microcephaly
- Deeply set eye
- Global developmental delay
- Microphthalmia
- Failure to thrive
- Recurrent pneumonia
- Axial hypotonia
- Gliosis
- Small for gestational age
- Cryptorchidism