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Koolen-de Vries syndrome due to a point mutation

MedGen UID:
1843302
Concept ID:
C5680974
Disease or Syndrome
Synonym: Koolen-De Vries syndrome due to a point mutation
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018217
Orphanet: ORPHA363965

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104

Diagnosis

Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104

Prognosis

Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104

Clinical prediction guides

Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104

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