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ABHD5
- Cerebral Creatine Deficiency
SALL4
- Duane-Radial Ray Syndrome
COL6A1
- Bethlem Myopathy
FMR1
- Fg Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
- Renpenning's Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
MMUT
- Methylmalonyl-Coa Mutase Deficiency
MED12
- Fg Syndrome
COL6A3
- Bethlem Myopathy
PQBP1
- Renpenning's Syndrome
COL6A2
- Bethlem Myopathy
ABCC9
- Cantú Syndrome
UMOD
- Medullary Cystic Kidney Disease
RECQL4
- Baller–gerold Syndrome
UBE3B
- Kaufman Oculocerebrofacial Syndrome
DBH
- Dopamine Beta Hydroxylase Deficiency
KCNJ8
- Cantú Syndrome
AGGF1
- Klippel–trénaunay Syndrome
FLNA
- Fg Syndrome
- Intestinal Neuronal Dysplasia
COL12A1
- Bethlem Myopathy
GLRB
- Hyperekplexia