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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
Microcephalic Osteodysplastic Primordial Dwarfism Type 1, (MOPD1) approved 210710
Microcephalic Osteodysplastic Primordial Dwarfism Type 2, (MOPD2) approved 210720
Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation approved 152950
Microcephaly, developmental delay and seizures, associated with homozygous mutations in the CSTB awaiting approval 601145
Microcephaly, Short Stature and Polymicrogyria with or without seizures (MSSP) approved 614833
Mismatch Repair Cancer Syndrome (MMRCS) approved 276300
Mitochondrial Complex 1 Deficiency caused by mutation in ACAD9 gene approved 611126
Mitochondrial Complex II Deficiency approved 252011
Mitochondrial Complex III Deficiency approved 124000
Mitochondrial Complex IV Deficiency approved 220110
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 2 (MC5DN2) approved 614052
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 5 (MC5DN5) approved 618120
Mitochondrial Complex V Deficiency approved 604273
Mitochondrial DNA Depletion Syndrome 13 (MTDPS13) approved 615471
Mitochondrial DNA Depletion Syndrome 15 (MTDPS15) approved 617156
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) (MTDPS2) approved 609560
Mitochondrial DNA Depletion Syndrome 3 (MTDPS3) approved 251880
Mitochondrial DNA depletion syndrome 4A (Alpers type) (MTDPS4A) approved 203700
Mitochondrial DNA Depletion Syndrome 5 (MTDPS5) approved 612073
Mitochondrial DNA Depletion Syndrome 6 (MTDPS6) approved 256810