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ADSL
- Adenylosuccinate Lyase Deficiency
- Argininosuccinic Aciduria
ASL
- Argininosuccinic Aciduria
PMM2
- Pmm2 Deficiency
SALL4
- Duane-Radial Ray Syndrome
GJA1
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
FMR1
- Disinhibition
- Renpenning's Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
- Fg Syndrome
SLC6A19
- Hartnup Disease
TTPA
- Familial Isolated Vitamin E Deficiency
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
MOCOS
- Xanthinuria
RECQL4
- Baller–gerold Syndrome
MED12
- Fg Syndrome
FAM20A
- Enamel-Renal Syndrome
UBE3B
- Kaufman Oculocerebrofacial Syndrome