Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
Spondyloenchondrodysplasia with immune dysregulation

Also known as: Roifman Immunoskeletal syndrome, SEM, SPENCD, SPENCDI, Spondyloenchondrodysplasia with immune dysregulation, combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, spondyloenchondrodysplasia, spondyloenchondrodysplasia with immune dysregulation, spondyloenchondromatosis, spondylometaphyseal dysplasia with combined immunodeficiency, spondylometaphyseal dysplasia with enchondromatous changes

spondyloepimetaphyseal dysplasia with joint laxity

Also known as: SEMD-JL, SEMDJL, SEMDJL1, spondyloepimetaphyseal dysplasia joint laxity, spondyloepimetaphyseal dysplasia with joint laxity, spondyloepimetaphyseal dysplasia with joint laxity type 1, spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Also known as: B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity, SEMDJL, SEMDJL1, spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures, spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6, spondyloepimetaphyseal dysplasia with joint laxity, Beighton type, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

spondyloepimetaphyseal dysplasia with multiple dislocations

Also known as: SEMD-MD, SEMDJL2, spondyloepimetaphyseal dysplasia with JOINT laxity type 2, spondyloepimetaphyseal dysplasia with JOINT laxity, type 2, spondyloepimetaphyseal dysplasia with Joint laxity, Hall type, spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with Joint laxity, type 2, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity type 2, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations Hall type, spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Also known as: SMED short limb-hand type, SMED type 2, Smed short limb-abnormal calcification type, Smed, short limb-abnormal calcification type, Smed, short limb-hand type, Smed, type 2, Smed-SL, Smed-SL/Ac, spondyloepimetaphyseal dysplasia - short limb - abnormal calcification, spondylometaepiphyseal dysplasia short limb-abnormal calcification type, spondylometaepiphyseal dysplasia short limb-hand type, spondylometaepiphyseal dysplasia, short limb-abnormal calcification type, spondylometaepiphyseal dysplasia, short limb-hand type

spondyloepimetaphyseal dysplasia, Bieganski type

Also known as: H-SMD, LKMCD, SEMD X-linked with mental deterioration, SEMD, X-linked, with mental deterioration, hypomyelination-spondyloepimetaphyseal dysplasia syndrome, leukoencephalopathy with metaphyseal chondrodysplasia, leukoencephalopathy-SEMD syndrome, leukoencephalopathy-metaphyseal chondrodysplasia syndrome, spondyloepimetaphyseal dysplasia X-linked with mental deterioration, spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive, spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration

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