MFMD

Search

Browse the database

By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome

OMIM: 601559
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

LIFR || c.2074C>T

Gene/Locus:	LIFR
Dna Change:	c.2074C>T
Protein Change:	p.Arg692X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 15
Transcript:	NM_001127671.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	6 patients / 4 unrelated families	NA	Yeşil G et al., 2014Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T, . Stuve-Wiedemann syndrome: is it underrecognized?. Am. J. Med. Genet. A. 2014; 164(9):2200-5

References

Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T, Stuve-Wiedemann syndrome: is it underrecognized?Am. J. Med. Genet. A. 2014; 164(9):2200-5

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome

References