Conditions / Syndrome
trichohepatoenteric syndrome 1
info · Syndrome
A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15.
Signs and symptoms
- Prominent forehead
- Hypertelorism
- Galactosuria
- Intractable diarrhea
- Broad forehead
- Trichorrhexis nodosa
- Villous atrophy
- Intrauterine growth retardation
- Decreased circulating immunoglobulin concentration
- Neurodevelopmental delay
Also known as: THES1