Omodysplasia-2 is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal dominant
17q21.31
Omodysplasia-2 is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 164745.1 | United Arab Emirates | Female | No | Yes | Global developmental delay; Abnormal fac... Global developmental delay; Abnormal facial shape; Seizure  | NM_001466.3:c.254C>A | Heterozygous | Saleh et al. 2021 | De novo mutation |