Genetic Disorders and the Fetus. Группа авторов

AR 3 6 5 9 3 3 Albinism, oculocutaneous, type iii (OCA3) TYRP1 AR 1 1 0 0 0 0 Allan–Herndon–Dudley syndrome (AHDS) SLC16A2 XL 1 2 2 2 1 1 Alopecia universalis congenita (ALUNC) HR AR 1 1 1 2 1 1 Alpha‐1‐antitrypsin deficiency (A1ATD) SERPINA1 AR 9 16 14 18 9 8 Alport syndrome, autosomal dominant COL4A3 AR 1 4 0 0 0 0 Alport syndrome, X‐linked (ATS) COL4A5 XL 8 16 15 22 10 9 Alzheimer disease 3 PSEN1 AD 2 3 3 6 3 3 Alzheimer disease 4 PSEN2 AD 1 1 1 2 0 0 Alzheimer disease (AD) APP AD 2 3 2 4 2 1 Amegakaryocytic thrombocytopenia, congenital (CAMT) MPL AR 1 1 0 0 0 0 Amyloidosis, hereditary, transthyretin‐related TTR AD 3 7 5 6 3 2 Amyotrophic lateral sclerosis 1 (ALS1) SOD1 XL 2 2 2 3 2 1 Amyotrophic lateral sclerosis 4, juvenile (ALS4) SETX AD 1 1 1 1 1 1 Anemia, nonspherocytic hemolytic, due to g6pd deficiency G6PD XL 9 12 12 15 6 6 Angelman syndrome (AS) UBE3A AD 2 2 2 3 1 1 Angioedema, hereditary, type i (HAE1) C1NH AD 3 4 3 4 1 1 Aniridia (AN) PAX6 AD 4 7 5 6 4 4 Aortic valve disease 1 (AOVD1) NOTCH1 AD 1 1 2 2 1 1 Argininosuccinic aciduria ASL AR 2 3 3 4 1 1 Arterial tortuosity syndrome