autosomal recessive isolated ectopia lentis 2

Summary
Synonym
  • ECTOL2
Definition
An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Super Class
autosomal recessive disease isolated ectopia lentis
Disease Ontology
DOID:0111149
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54507 ADAMTSL4 ADAMTS like 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
229595 Adamtsl4 ADAMTS-like 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6UY14 ADAMTS-like protein 4
Displaying 1 entry
UniProt ID Protein Name Source
Q80T21 ADAMTS-like protein 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025