VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
2p21
VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617660.1.1 | Iraq | Male | No | Yes | Vertebral segmentation defect; Atrial se... Vertebral segmentation defect; Atrial septal defect; Renal hypoplasia; Vesicoureteral reflux; Sensorineural hearing impairment; Talipes; Intellectual disability  | NM_012205.3:c.483dup | Homozygous | Autosomal, Recessive | Shi et al. 2017 | |
| 617660.2.1 | Lebanon | Female | No | Yes | Vertebral segmentation defect; Hypoplast... Vertebral segmentation defect; Hypoplastic left heart; Renal hypoplasia; Sensorineural hearing impairment | NM_012205.3:c.558G>A | Homozygous | Autosomal, Recessive | Shi et al. 2017 | |
| 617660.2.2 | Lebanon | Female | | NM_012205.3:c.558G>A | Heterozygous | Shi et al. 2017 | Mother of 617660.2.1 | |||
| 617660.2.3 | Lebanon | Male | | NM_012205.3:c.558G>A | Heterozygous | Shi et al. 2017 | Father of 617660.2.1 | |||
| 617660.2.G | Lebanon | Male | | NM_012205.3:c.558G>A | Heterozygous | Shi et al. 2017 | 3 siblings of 617660... |