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PNP
- Purine Nucleoside Phosphorylase Deficiency
CHM
- Choroideremia
RPSA
- Isolated Congenital Asplenia
- Diamond–blackfan Anemia
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
RPS19
- Isolated Congenital Asplenia
- Diamond–blackfan Anemia
ATXN3
- Machado–joseph Disease
GATA1
- Diamond–blackfan Anemia
RPS24
- Diamond–blackfan Anemia
RPS17
- Diamond–blackfan Anemia
NDN
- Prader–willi Syndrome
LMX1B
- Proteinuria
ADA2
- Diamond–blackfan Anemia
- Livedo Reticularis
TOE1
- Pontocerebellar Hypoplasia
TGFB1
- Synovial Sarcoma
- Proteinuria
AGTR1
- Primary Ovarian Insufficiency
- Proteinuria
HAVCR1
- Proteinuria