Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
9q22.31
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| FAM120AOS.1 | Saudi Arabia | Unknown | Yes | Yes | Coarse facial features; Scoliosis; Pectu... Coarse facial features; Scoliosis; Pectus excavatum; Hypotonia; Chronic lung disease; Gastroesophageal reflux  | NM_198841.4:c.743C>T | Homozygous | Autosomal, Recessive | Alazami et al. 2015 |