Ehlers-Danlos syndrome kyphoscoliotic type 1

Summary
Definition
An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.
Super Class
Ehlers-Danlos syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0080734
Mondo Disease Ontology
OMIM
Related Glycoprotein

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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: August 19, 2024