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CFAP410
- Retinal Dystrophy With Or Without Macular Staphyloma
- Spondylometaphyseal Dysplasia, Axial
VPS33B
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
ZNF469
- Brittle Cornea Syndrome 1
ABHD5
- Cerebral Creatine Deficiency
VIPAS39
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
MKS1
- Bardet-Biedl Syndrome 9
PABPN1
- Oculopharyngeal Muscular Dystrophy
RET
- Thyroid Carcinoma, Familial Medullary
BBS10
- Bardet-Biedl Syndrome 9
TBCE
- Ear Malformation
- Sanjad-Sakati Syndrome
NTRK1
- Thyroid Carcinoma, Familial Medullary
SALL4
- Wildervanck Syndrome
- Duane Syndrome
SDCCAG8
- Bardet-Biedl Syndrome 9
LZTFL1
- Bardet-Biedl Syndrome 9
BBIP1
- Bardet-Biedl Syndrome 9
MAFB
- Ear Malformation
- Duane Syndrome
GARS1
- Distal Hereditary Motor Neuropathy Type V
SIGMAR1
- Distal Spinal Muscular Atrophy Type 2
CHN1
- Ear Malformation
- Duane Syndrome
GNPTAB
- Pseudo-Hurler Polydystrophy