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Gene profile

LIM2

HGNC:6610 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
2Linked variants
3Associated phenotypes

Associated phenotypes

Co-mentioned in LIM2 publications
PhenotypeIdentifierArticlesMentions
hearing lossHP:000036511
developmental delayHP:000126311
congenital cataract11

Linked variants

Variants normalized to LIM2
VariantHGVS / rsIDArticlesMentions
c.233G>Ac.233G>A11
p.G78Dp.G78D11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia1
Not specified1921

Supporting publications

2 records
  1. 2017Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.BMC endocrine disordersPubMed ↗
  2. 2016Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.PloS onePubMed ↗