|
Shwachman-Diamond syndrome (SDS) |
approved
|
260400 |
|
|
|
|
Sialic Acid Storage Disorder (ISSD) |
approved
|
269920 |
|
|
|
|
Sickle Cell Anaemia* |
approved
|
603903 |
|
|
Simpson Golabi Behmel Syndrome Type 1 |
approved
|
312870 (to detect affected males) |
|
|
Simpson-Golabi-Behmel Syndrome Type 2 |
approved
|
300209 |
|
|
|
|
Sjogren Larsson Syndrome (SLS) |
approved
|
270200 |
|
|
|
|
Small-fibre neuropathy (SFN) |
approved
|
133020 |
|
|
Smith Lemli Opitz Syndrome (SLOS) |
approved
|
270400 |
|
|
SOPH Syndrome (Short Stature, Optic Nerve Atrophy, Pelger-Huet anomaly) |
approved
|
614800 |
|
|
|
|
Sotos syndrome 1 |
approved
|
117550 |
|
|
|
|
Spastic Ataxia 1, Autosomal Dominant (SPAX1) |
approved
|
108600 |
|
|
|
|
Spastic Ataxia 2, Autosomal Recessive (SPAX2) |
approved
|
611302 |
|
|
|
|
Spastic Ataxia 3, Autosomal Recessive (SPAX3) |
approved
|
611390 |
|
|
|
|
Spastic Ataxia 5, Autosomal Recessive (SPAX5) |
approved
|
614487 |
|
|
|
|
Spastic Ataxia 8, Autosomal REcessive with Hypo-Myelinating Leukodystrophy (SPAX8) |
approved
|
617560 |
|
|
|
|
Spastic Ataxia, Charlevoix-Saguenay (SACS) |
approved
|
270550 |
|
|
|
|
Spastic paraplegia |
approved
|
|
|
|
Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected male embryos) |
approved
|
313200 |
|
|
Spinal Muscular Atrophy 1 (SMA1) |
approved
|
253300 |
|
|
Spinal Muscular Atrophy and Respiratory Distress (SMARD1) |
approved
|
604320 |
|
