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ASL
- Argininosuccinic Aciduria
SALL4
- Duane-Radial Ray Syndrome
GJA1
- Neurodegeneration With Brain Iron Accumulation
- Oculodentodigital Dysplasia
COL6A1
- Bethlem Myopathy
BMPR1A
- Juvenile Polyposis Syndrome
SMAD4
- Juvenile Polyposis Syndrome
BEST1
- Vitelliform Macular Dystrophy
PMM2
- Pmm2 Deficiency
ABCA12
- Harlequin Ichthyosis
SLC17A5
- Salla Disease
MMUT
- Methylmalonyl-Coa Mutase Deficiency
SLC2A10
- Arterial Tortuosity Syndrome
MED12
- Fg Syndrome
COL6A3
- Bethlem Myopathy
COL4A1
- Arterial Tortuosity Syndrome
- Nephronophthisis 3
- Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
COL6A2
- Bethlem Myopathy
KLF1
- Congenital Dyserythropoietic Anemia
- Hereditary Spherocytosis
SLC25A20
- Carnitine-Acylcarnitine Translocase Deficiency
RECQL4
- Baller–gerold Syndrome
LAMB2
- Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities