Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
3q22.1
This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities. According to these criteria, polydactyly is a variable feature. Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 267010.3 | Saudi Arabia | Female | Polycystic kidney dysplasia Polycystic kidney dysplasia  | NM_153240.5:c.2694-2_2694-1del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 267010.4 | Saudi Arabia | Female | Intrauterine growth retardation Intrauterine growth retardation | NM_153240.5:c.2694-2_2694-1del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 267010.5 | Saudi Arabia | Male | Polycystic kidney dysplasia Polycystic kidney dysplasia | NM_153240.5:c.2694-2_2694-1del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 267010.1.G | Saudi Arabia | Unknown | Yes | Polycystic kidney dysplasia; Anencephaly Polycystic kidney dysplasia; Anencephaly | NM_153240.5:c.2694-2_2694-1del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | Two deceased neonate... | |
| 267010.2.G | Saudi Arabia | Unknown | Yes | Renal agenesis; Polydactyly Renal agenesis; Polydactyly | NM_153240.5:c.2694-2_2694-1del | Homozygous | Autosomal, Recessive | Monies et al. 2019 | Two deceased neonate... |