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VPS33B
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ABHD5
- Cerebral Creatine Deficiency
VIPAS39
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
PABPN1
- Oculopharyngeal Muscular Dystrophy
ZNF469
- Brittle Cornea Syndrome 1
MKS1
- Bardet-Biedl Syndrome 9
RET
- Thyroid Carcinoma, Familial Medullary
TBCE
- Ear Malformation
- Sanjad-Sakati Syndrome
BBS10
- Bardet-Biedl Syndrome 9
NTRK1
- Thyroid Carcinoma, Familial Medullary
- Leiomyosarcoma
GARS1
- Distal Hereditary Motor Neuropathy Type V
SDCCAG8
- Bardet-Biedl Syndrome 9
LZTFL1
- Bardet-Biedl Syndrome 9
GNPTAB
- Pseudo-Hurler Polydystrophy
SIGMAR1
- Distal Spinal Muscular Atrophy Type 2
BSCL2
- Distal Hereditary Motor Neuropathy Type V
BBIP1
- Bardet-Biedl Syndrome 9
SLC20A2
- Primary Familial Brain Calcification
PDGFRB
- Cerebral Creatine Deficiency
- Primary Familial Brain Calcification
- Leiomyosarcoma
ABCB11
- Congenital Afibrinogenemia
- Intrahepatic Cholestasis Of Pregnancy