Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
3q27.1
The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face'. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616894.1 | Saudi Arabia | Male | Yes | No | Webbed neck; Hypertelorism; Ptosis; Long... Webbed neck; Hypertelorism; Ptosis; Long philtrum; Global developmental delay; Cardiomyopathy  | NM_004423.4:c.903G>C | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |