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GJA1
- Oculodentodigital Dysplasia
- Situs Ambiguus
- Heart Arrhythmia
- Adenoid Cystic Carcinoma
SALL4
- Duane-Radial Ray Syndrome
- Heart Arrhythmia
TTPA
- Familial Isolated Vitamin E Deficiency
- Heart Arrhythmia
COL6A1
- Bethlem Myopathy
FMR1
- Disinhibition
- Renpenning's Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
ACADVL
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
MMUT
- Methylmalonyl-Coa Mutase Deficiency
SLC17A5
- Salla Disease
COL6A3
- Bethlem Myopathy
COL6A2
- Bethlem Myopathy
PQBP1
- Renpenning's Syndrome
RECQL4
- Baller–gerold Syndrome
FAM20A
- Enamel-Renal Syndrome
ACVR2B
- Takayasu's Arteritis
- Situs Ambiguus
IFIH1
- Singleton Merten Syndrome
MMP21
- Situs Ambiguus
COL12A1
- Bethlem Myopathy
ZIC3
- Situs Ambiguus
PIK3CA
- Salla Disease
- Heart Arrhythmia
- Adenoid Cystic Carcinoma
CD55
- Protein Losing Enteropathy