SCHNECKENBECKEN DYSPLASIA (CDG) | |
SLC35D1-CDG; CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS | |
269250
OMIM = Online Mendelian Inheritance of Men | |
3144 | |
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter | |
1p31.3 |
|
Q77.7 | |
rare autosomal recessive mutation in the SLC35D1 gene | |
Laboratory findings | |
Symptoms | cleft palate clubfoot dwarfism onset, fetus onset, neonatal polyhydramnion (maternal) shortening of long bones skeletal changes, skeletal abnormalities |