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PGD conditions

This table shows all PGD conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
Rhizomelic Chondrodysplasia Punctata Type 1 awaiting approval 215100
Rhizomelic Chondrodysplasia Punctata Type 3 awaiting approval 600121
Rhizomelic Chondrodysplasia Punctata Type 5 awaiting approval 616716
Rigid spine muscular dystrophy approved 602771
Robinow Syndrome Autosomal Dominant-Type 1 (DRS1) approved 180700
Robinow Syndrome Autosomal Dominant-Type 2 (DRS2) approved 616331
Robinow Syndrome Autosomal Dominant-Type 3 (DRS3) approved 616894
Robinow Syndrome Autosomal Recessive-Type 1 (RRS1) approved 268310
Robinow Syndrome Autosomal Recessive-Type 2 (RRS2) approved 618529
Rothmund-Thomson Syndrome (RTS) approved 268400
Saethre-Chotzen Syndrome (SCS) approved 101400
Salla Disease approved 604369
Sandhoff Disease approved 268800
Sanjad Sakati Syndrome (SLSN6) approved 241410
Schwannomatosis type 1 approved 162091
Schwannomatosis type 2 approved 615670
Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS) approved 616632
Sengers Syndrome approved 212350
Senior Loken Syndrome 6 approved 610189
Severe / Profound Global Developmental Delay and Epilepsy (GRM7 gene) approved 604101