Geleophysic dysplasia-2 is an autosomal dominant form of geleophysic dysplasia caused by heterozygous mutation in the FBN1 gene. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
15q21.1
Geleophysic dysplasia-2 is an autosomal dominant form of geleophysic dysplasia caused by heterozygous mutation in the FBN1 gene. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 231050.2 | Lebanon | Short stature Short stature  | NM_000138.4:c.5157C>G | Heterozygous | Autosomal, Dominant | Le Goff et al. 2011 | de novo mutation | |||
| 231050.3 | Algeria | Short stature; Mitral stenosis; Tricuspi... Short stature; Mitral stenosis; Tricuspid stenosis | NM_000138.4:c.5117G>A | Heterozygous | Autosomal, Dominant | Le Goff et al. 2011 | de novo mutation | |||
| 231050.4 | Iraq | Short stature; Hepatomegaly Short stature; Hepatomegaly | NM_000138.4:c.5182G>A | Heterozygous | Autosomal, Dominant | Le Goff et al. 2011 | de novo mutation | |||
| 614185.1 | Palestine | Female | No | Short stature; Abnormal heart valve morp... Short stature; Abnormal heart valve morphology; Anteverted nares; Round face | NM_000138.5:c.5096A>G | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation | |
| 614185.G.1 | Saudi Arabia | Yes | No | Ectopia Lentis Ectopia Lentis | NM_000138.5:c.2051G>A | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | Five related patient... |