Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
8q24.3
Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615583.1 | Saudi Arabia | Male | Yes | Yes | Cleft lip; Abnormality of the vertebral ... Cleft lip; Abnormality of the vertebral column  | NM_078480.3:c.24+1G>C | Homozygous | Autosomal, Recessive | Monies et al. 2019 | Father is similarly ... |