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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
Loeys-Dietz syndrome types 1 and 2 approved 609192, 610168
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency approved 609016
Long QT Syndrome Types 1, 2, 3, 5 & 6 approved 192500, 613688, 603830, 613695, 613693
Lowe Oculocerebrorenal Syndrome approved 309000
Lubs X-linked mental retardation syndrome MRXSL (MECP2 Duplication syndrome) approved 300260
Lymphatic malformation 1, (LMPHM1) (Milroy Syndrome) approved 153100
Lymphatic malformation 3, (LMPHM3) approved 613480
Lymphatic malformation 4, (LMPHM4) approved 615907
Lymphatic malformation 6, (LMPHM6) approved 616843
Lymphatic malformation 7, (LMPHM7) approved 617300
Lymphoproliferative Syndrome, X-linked,1 (XLR) approved 308240
Mabry Syndrome (Hyperphosphatasia mental retardation syndrome-HPMRS), Type 1 approved 239300
Malignant Infantile Osteopetrosis approved 259700
Maple Syrup Urine Disorder (MSUD) approved 248600
Marfan Syndrome (MFS) approved 154700
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11 approved 249000, 603194, 607361, 611134, 611561, 612284, 267010, 613885, 614209, 614175 and 615397
Medium-Chain Acyl-CoA Dehydrogenase Deficiency approved 201450
Medullary Cystic Kidney Disease 2 (MCKD2) (also known as Autosomal Dominant Tubulointerstitial Kidney Disease due to Uromodulin Mutations (ADTKD-UMOD) approved 603860
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency (DHFR) approved 613839
MEGDEL syndrome (3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome) approved 614739