Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
arthrogryposis, distal, type 2B3

Also known as: DA2B3, arthrogryposis, distal, type 2B3, arthrogryposis, distal, type 2B3 (Sheldon-Hall), distal arthrogryposis type 2B3 (Sheldon-Hall)

arthrogryposis, renal dysfunction, and cholestasis 1

Also known as: ARCS1, Arc syndrome, VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome, arthrogryposis, renal dysfunction, and cholestasis 1, arthrogryposis, renal dysfunction, and cholestasis type 1, arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B

arthrogryposis, renal dysfunction, and cholestasis 2

Also known as: ARCS2, VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome, arthrogryposis, renal dysfunction, and cholestasis 2, arthrogryposis, renal dysfunction, and cholestasis type 2, arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39

Arts syndrome

Also known as: ARTS, Arts, Arts syndrome, Arts syndrome, X-linked recessive, MRXS18, MRXSARTS, X-linked fatal ataxia with deafness and loss of vision, ataxia, fatal X-linked, with deafness and loss of vision, fatal X-linked ataxia with deafness and loss of vision, intellectual disability, X-linked, syndromic 18, intellectual disability, X-linked, syndromic, Arts type, lethal ataxia with deafness and optic atrophy, lethal ataxia-deafness-optic atrophy, mental retardation, X-linked, syndromic 18, mental retardation, X-linked, syndromic, Arts type, syndromic X-linked intellectual disability 18, syndromic X-linked intellectual disability Arts type, syndromic X-linked mental retardation 18, syndromic X-linked mental retardation Arts type

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