Acromelic frontonasal dysostosis (AFND) ZSWIM6
Sanger
Del Dup
Aortic aneurysm, familial thoracic 9 (AAT9) MFAP5
Sanger
Del Dup
Catel-Manzke syndrome (CATMANS) TGDS
Sanger
Del Dup
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) ARSE
Sanger
Del Dup
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) & Chondrodysplasia punctata 2, X-linked dominant (CDPX2) ARSE, EBP
Sanger
Del Dup
Chondrodysplasia punctata 2, X-linked dominant (CDPX2) EBP
Sanger
Del Dup
Chondrodysplasia, Blomstrand type (BOCD) PTH1R
Sanger
Del Dup
Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) EDA
Sanger
Del Dup
Ehlers-Danlos syndrome, progeroid type, 1 / 2 (EDSP1 / EDSP2) B3GALT6, B4GALT7
Sanger
Del Dup
Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) B3GALT6
Sanger
Del Dup
Eiken syndrome PTH1R
Sanger
Del Dup
Failure of tooth eruption, primary (PFE) PTH1R
Sanger
Del Dup
Metaphyseal chondrodysplasia, Jansen type PTH1R
Sanger
Del Dup
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Sanger
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) and Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) BMPR2, EIF2AK4
Sanger
Del Dup
Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) EIF2AK4
Sanger
Del Dup
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) PEX7
Sanger
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 1 / 2 / 3 (RCDP1 / RCDP2 / RCDP3) AGPS, GNPAT, PEX7
Sanger
Del Dup
Rhizomelic chondrodysplasia punctata, type 2 (RCDP2) GNPAT
Sanger
Del Dup
Rhizomelic chondrodysplasia punctata, type 3 (RCDP3) AGPS
Sanger
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1) B3GALT6
Sanger
Del Dup
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1) and Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) B3GALT6, KIF22
Sanger
Del Dup

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