Agammaglobulinaemia (x-linked) |
approved
|
300755 |
|
Agammaglobulinemia and isolated hormone deficiency |
approved
|
307200 |
|
Aicardi Goutieres syndrome Types 2, 3, 4, 5 and 6 |
approved
|
610181, 610329, 610333, 612952, 615010 |
|
|
Aicardi-Goutieres Syndrome 1 (AGS1) |
approved
|
225750 |
|
Alagille Syndrome |
approved
|
118450 |
|
Alexander Disease (ALX) |
approved
|
203450 |
|
|
Allan-Herndon-Dudley Syndrome |
approved
|
300523 |
|
|
Alpha Thalassaemia/mental retardation Syndrome* (ATRX) |
approved
|
301040 |
|
Alpha Thalassemia |
approved
|
141800 |
|
Alpha-1-antitrypsin deficiency |
approved
|
+107400 (where two Z alleles are inherited) |
|
Alpha-Mannosidosis |
approved
|
248500 |
|
Alport Syndrome |
approved
|
301050 |
|
Alport Syndrome |
approved
|
203780 |
|
|
Alport Syndrome (Autosomal Dominant) |
approved
|
104200 |
|
Alzheimer's Disease - early onset |
approved
|
104300 |
|
Alzheimer's Disease - early onset (Types 3 and 4) |
approved
|
607822, 606889 |
|
Amyotrophic Lateral Sclerosis (ALS) 6 |
approved
|
608030 |
|
Amyotrophic Lateral Sclerosis 1 (ALS1) |
approved
|
105400 |
|
Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia |
approved
|
612069 |
|
|
Amyotrophic lateral sclerosis 11 |
approved
|
612577 |
|
|