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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
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type; WTS approved 309585
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type; MRXSW approved , OMIM #300699
Intellectual Disability, Autosomal Recessive 12 approved 611090
Intellectual Disability, X-linked 102 (MRX102) approved 300958
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked) approved 304790
Isolated Growth Hormone Deficiency - type 1A (IGHD1A) approved 262400
Isolated Microphthalmia 2 (MCOP2) approved 610093
Isolated Sulfite Oxidase Deficiency (ISOD) approved 272300
Jackson Weiss syndrome, OMIM approved 123150
Jalili Syndrome approved 217080
Jervell and Lange-Nielsen Syndrome 1 (JLNS1) approved 220400
Jervell and Lange-Nielsen Syndrome 2 (JLNS2) approved 612347
Joubert syndrome type 1 approved 213300
Joubert syndrome type 10 approved 300804
Joubert syndrome type 13 approved 614173
Joubert syndrome type 14 approved 614424
Joubert syndrome type 15 approved 614464
Joubert syndrome type 16 approved 614465
Joubert syndrome type 17 approved 614615
Joubert syndrome type 18 approved 614815