Geleophysic Dysplasia 2

Alternative Names

  • GPHYSD2

Associated Genes

Fibrillin 1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

614185

Mode of Inheritance

Autosomal dominant

Gene Map Locus

15q21.1

Description

Geleophysic dysplasia-2 is an autosomal dominant form of geleophysic dysplasia caused by heterozygous mutation in the FBN1  gene. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614185.1PalestineFemaleNo Short stature; Abnormality of the heart ... NM_000138.5:c.5096A>GHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
614185.G.1Saudi ArabiaYesNo Ectopia Lentis... NM_000138.5:c.2051G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 Five related patient...
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