KEGG   DISEASE: Joint laxity, short stature, and myopia
Entry
H02502                      Disease                                
Name
Joint laxity, short stature, and myopia
Description
Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement. GZF1 encodes a transcription factor which is expressed in the eyes and limbs.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02502  Joint laxity, short stature, and myopia
Gene
GZF1 [HSA:64412] [KO:K22402]
Other DBs
ICD-11: LD28.Y
MeSH: D007593
OMIM: 617662
Reference
PMID:28475863
  Authors
Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS
  Title
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
  Journal
Am J Hum Genet 100:831-836 (2017)
DOI:10.1016/j.ajhg.2017.04.008
LinkDB

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