Conditions / Syndrome
3MC syndrome 3
info · Syndrome
A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
Signs and symptoms
- Blepharophimosis
- Epicanthus inversus
- Highly arched eyebrow
- Hearing impairment
- Intellectual disability
- Penoscrotal hypospadias
- Ptosis
- Bifid scrotum
- Growth delay
- Tessier cleft