Autoszomális recesszív
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Más néven
Meckel-Gruber syndrome
14 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Meckel syndrome 13
- meckel syndrome 14
- Meckel syndrome, type 1
- Meckel syndrome, type 10
- Meckel syndrome, type 11
- Meckel syndrome, type 2
- Meckel syndrome, type 3
- Meckel syndrome, type 4
- Meckel syndrome, type 5
- Meckel syndrome, type 6
- Meckel syndrome, type 8
- Meckel syndrome, type 9
- NPHP3-related Meckel-like syndrome
