Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
X-linked recessive
Xq26.3
Hetrotaxy is a condition wherein internal organs are abnormally arranged in the viscera. This may be either total or partials.
Hetrotaxy is a clinically and genetically heterogenous condition. X-Linked heterotaxy is a rare condition, caused due to mutations in the ZIC3 gene. Mutations in theis gene are also associated with various other cardiac defects.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 306955.1.1 | Lebanon | Male | Yes | Cyanosis; Neonatal respiratory distress... Cyanosis; Neonatal respiratory distress; Hypertelorism; Sagittal craniosynostosis; Transposition of the great arteries; Neonatal death;  | NM_003413.3:c.1222A>T | Hemizygous | X-linked, Recessive | Mégarbané et al, 2000 | Maternal cousin of 3... | |
| 306955.1.2 | Lebanon | Male | Yes | Cyanosis; Neonatal respiratory distress... Cyanosis; Neonatal respiratory distress; Hypertelorism; Wide nasal base; Persistent left superior vena cava; Atrial septal defect; Hypoplasia of right ventricle; Neonatal death; | NM_003413.3:c.1222A>T | Hemizygous | X-linked, Recessive | Mégarbané et al, 2000 | Maternal cousin of 3... | |
| 306955.1.3 | Lebanon | Male | Yes | Cyanosis; Neonatal death; Cyanosis; Neonatal death; | NM_003413.3:c.1222A>T | Hemizygous | X-linked, Recessive | Mégarbané et al, 2000 | Maternal uncle of 30... | |
| 306955.2.1 | Lebanon | Female | Yes | Yes | Patent ductus arteriosus; Bilateral pos... Patent ductus arteriosus; Bilateral postaxial polydactyly | NM_004078.3:c.447_460dup, NM_014112.5:c.933G>C | Heterozygous | Autosomal, Dominant | Kamar et al. 2017 | |
| 306955.2.2 | Lebanon | Male | Yes | Yes | Ventricular septal defect; Bilateral po... Ventricular septal defect; Bilateral postaxial polydactyly; Finger syndactyly | NM_004078.3:c.447_460dup, NM_014112.5:c.933G>C | Heterozygous | Autosomal, Dominant | Kamar et al. 2017 | Sibling of 306955.2.... |
| 306955.2.3 | Lebanon | Female | Yes | Yes | Patent foramen ovale; Postaxial polydac... Patent foramen ovale; Postaxial polydactyly | NM_004078.3:c.447_460dup, NM_014112.5:c.933G>C | Heterozygous | Autosomal, Dominant | Kamar et al. 2017 | Sibling of 306955.2.... |
| 306955.2.4 | Lebanon | Female | Yes | Yes | Atrial septal defect Atrial septal defect | NM_004078.3:c.447_460dup, NM_014112.5:c.933G>C | Heterozygous | Autosomal, Dominant | Kamar et al. 2017 | Sibling of 306955.2.... |
| 306955.2.5 | Lebanon | Male | Yes | Bilateral postaxial polydactyly Bilateral postaxial polydactyly | NM_004078.3:c.447_460dup | Heterozygous | Autosomal, Dominant | Kamar et al. 2017 | Father of 306955.2.1 | |
| 601631.1.1 | Lebanon | Female | Yes | Yes | Primary congenital glaucoma; Aniridia; ... Primary congenital glaucoma; Aniridia; Ventricular septal defect | NM_172390.3:c.704G>A | Heterozygous | Autosomal, Dominant | Khalil et al, 2017 | |
| 601631.1.3 | Lebanon | Female | Yes | Yes | Primary congenital glaucoma; Aniridia; ... Primary congenital glaucoma; Aniridia; Congestive heart failure; ventricular septal defect; | NM_172390.3:c.704G>A | Heterozygous | Autosomal, Dominant | Khalil et al, 2017 | Sibling of 601631.1.... |