EBSPA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
8q24.3
EBSPA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612138.1.1 | Lebanon | Male | No | Yes | Abnormal blistering of the skin; Aplas... Abnormal blistering of the skin; Aplasia cutis congenita on trunk or limbs; Neonatal death  | NM_000445.5:c.913C>T | Homozygous | Autosomal, Recessive | Pfendner and Uitto. 2005 | |
| 612138.2.1 | Saudi Arabia | Female | Yes | Abnormal blistering of the skin; Conge... Abnormal blistering of the skin; Congenital pyloric atresia; Neonatal death | NM_000445.5:c.9085C>T | Homozygous | Autosomal, Recessive | Pfendner and Uitto. 2005 | Neonatal death of si... |