Conditions / Syndrome
trichohepatoenteric syndrome 2
info · Syndrome
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
Signs and symptoms
- Woolly hair
- Colitis
- Hepatomegaly
- Bloody diarrhea
- Chronic hepatitis
- Trichorrhexis nodosa
- Diarrhea
- Wide nasal bridge
- Decreased circulating iron concentration
- Small for gestational age
Also known as: THES2