Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2q31.1
Junctional epidermolysis bullosa-6 with pyloric atresia (JEB6) is an autosomal recessive blistering disease of skin and mucous membranes. Pyloric atresia is usually evident within a few days of life. Full thickness skin loss (aplasia cutis congenita) may also occur. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. JEB5B is usually lethal within the first few weeks of life despite surgical correction of pyloric atresia. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 619817.1.1 | United Arab Emirates | Male | No | Yes | Aplasia cutis congenita; Microtia; Abn... Aplasia cutis congenita; Microtia; Abnormal blistering of the skin; Thrombocytopenia; Neutropenia; Neonatal death  | NM_001079818.3:c.140C>T | Homozygous | Autosomal, Recessive | Allegra et al. 2003 |