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PGT-M conditions

This table shows all PGT-M 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 pgtm@hfea.gov.uk.

Download full approved condition list.

Condition name Status OMIM number Documents
Joubert syndrome type 3 approved 608629
Joubert syndrome type 4 approved 609583
Joubert syndrome type 5 approved 610188
Joubert syndrome type 6 approved 610688
Joubert syndrome type 7 approved 611560
Joubert syndrome type 8 approved 612291
Joubert syndrome type 9 approved 612285
Junctional Epidermolysis Bullosa (Herlitz type) approved 226700
Juvenile Polyposis Syndrome (JPS) approved 174900
Kabuki Syndrome Type 1 approved 147920
Kabuki Syndrome Type 2 approved 300867
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) approved 530000, 557000
Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX) approved 308800
Krabbe Disease approved 245200
L–2-Hydroxyglutaric aciduria approved 236792
Lacrimo-auriculo-dento-digital syndrome (LADD) approved 149730
Langers Mesomelic Dysplasia (LMD) approved 249700
Larsen Syndrome approved 150250
Laryngo-onycho-cutaneous (LOC) Syndrome approved 245660
Laurin-Sandrow Syndrome awaiting approval #135750