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SALL4
- Duane-Radial Ray Syndrome
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
MMUT
- Methylmalonyl-Coa Mutase Deficiency
SLC17A5
- Salla Disease
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
RECQL4
- Baller–gerold Syndrome
IFIH1
- Singleton Merten Syndrome
COL12A1
- Bethlem Myopathy
CD55
- Protein Losing Enteropathy
MEN1
- Glucagonoma
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
GNE
- Salla Disease
IL6
- Fibrous Dysplasia Of Bone
- Aseptic Meningitis
KDM3B
- Metal Toxicity
CHN1
- Duane-Radial Ray Syndrome
- Aseptic Meningitis
FLNA
- Intestinal Neuronal Dysplasia
DDX58
- Singleton Merten Syndrome
ALB
- Aseptic Meningitis
- Protein Losing Enteropathy
- Disinhibition