Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal dominant
12q13.11
Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 200610.1 | Saudi Arabia | Male | Yes | Skeletal dysplasia; Short stature Skeletal dysplasia; Short stature  | NM_001844.5:c.1043G>A | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation |