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 |
|---|---|---|---|
| Menkes disease | approved | 309400 | |
| Mental Retardation, X-linked, Syndromic 34, caused by NONO gene mutation (MRXS34) | approved | 300967 | |
| Merosin Deficient Congenital Muscular Dystrophy type 1A (MDC1A) (also known as LAMA2-related Muscular Dystrophy) | approved | 607855 | |
| Metachromatic Leukodystrophy (MLD) | approved | 250100 | |
| Metaphyseal Dysplasia without Hypotrichosis | approved | 250460 | |
| Methylmalonic Acidemia (MMA) | approved | 251000 | |
| Methylmalonic Acidemia cb1A | approved | 251100 | |
| Methylmalonic Acidemia cb1B | approved | 251110 | |
| Methylmalonic Aciduria and Homocystinuria | approved | 277400 | |
| Micro Syndrome (WARBM) | approved | 600118 | |
| Microcephalic Osteodysplastic Primordial Dwarfism Type 1, (MOPD1) | approved | 210710 | |
| Microcephalic Osteodysplastic Primordial Dwarfism Type 2, (MOPD2) | approved | 210720 | |
| MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 | awaiting approval | 604317 | |
| Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation | approved | 152950 | |
| Microcephaly, Short Stature and Polymicrogyria with or without seizures (MSSP) | approved | 614833 | |
| 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 | |