Ehlers-Danlos syndrome kyphoscoliotic type 1

Term ID

DOID:0080734

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:225400

Ontology

Human Disease   ( DOID:0080734 )