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SALL4
- Duane-Radial Ray Syndrome
GJA1
- Oculodentodigital Dysplasia
- Hypercalcaemia
COL6A1
- Bethlem Myopathy
MMUT
- Methylmalonyl-Coa Mutase Deficiency
SLC17A5
- Salla Disease
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
RECQL4
- Baller–gerold Syndrome
IL6
- Fibrous Dysplasia Of Bone
- Aseptic Meningitis
- Hypercalcaemia
IFIH1
- Singleton Merten Syndrome
PTH
- Fibrous Dysplasia Of Bone
- Hypercalcaemia
COL12A1
- Bethlem Myopathy
MEN1
- Hypercalcaemia
- Glucagonoma
CD55
- Protein Losing Enteropathy
CASR
- Hypercalcaemia
SLC34A1
- Hypercalcaemia
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
PTHLH
- Hypercalcaemia
CYP24A1
- Hypercalcaemia
CALCA
- Hypercalcaemia