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SALL4
- Duane-Radial Ray Syndrome
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
COL2A1
- Collagen, Type Ii, Alpha-1
SLC4A1
- Southeast Asian Ovalocytosis
SLC17A5
- Salla Disease
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
SLC20A2
- Primary Familial Brain Calcification
PDGFRB
- Primary Familial Brain Calcification
SRD5A2
- 5α-Reductase Deficiency
COL12A1
- Bethlem Myopathy
PRNP
- Kuru, Susceptibility To
PDGFB
- Primary Familial Brain Calcification
GNE
- Salla Disease
CHN1
- Duane-Radial Ray Syndrome
- Aseptic Meningitis
FLNA
- Intestinal Neuronal Dysplasia
IL6
- Aseptic Meningitis
XPR1
- Primary Familial Brain Calcification
MYORG
- Primary Familial Brain Calcification