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Metadata
ID DOID:0112200
Name spondyloepimetaphyseal dysplasia with joint laxity type 3
Definition A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2.
https://pubmed.ncbi.nlm.nih.gov/26669664/
Xrefs

OMIM:618395

Synonyms

SEMDJL3 [EXACT]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia with joint laxity

is_a autosomal recessive disease

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