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
Also known as: SEMDJL3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3, spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type
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
Also known as: Whyte Petersen McAlister syndrome, Whyte syndrome, spondyloepimetaphyseal dysplasia with hypotrichosis
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
Also known as: SEMD, aggrecan type, SEMDAG, spondyloepimetaphyseal dysplasia, aggrecan 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
Also known as: SEMDDR, spondyloepimetaphyseal dysplasia, Di Rocco type
Also known as: Nans deficiency, SEMD Genevieve type, SEMD, Genevieve type, SEMD, Geneviève type, SEMDG, spondyloepimetaphyseal dysplasia Genevieve type, spondyloepimetaphyseal dysplasia, Camera-Genevieve type, spondyloepimetaphyseal dysplasia, Genevieve type, spondyloepimetaphyseal dysplasia, Geneviève type
Also known as: Handigodu JOINT disease, Hjd, spondyloepimetaphyseal dysplasia, Handigodu type
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