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ASL
- Argininosuccinic Aciduria
PMM2
- Pmm2 Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
PAH
- Phenylketonuria (Pku)
PQBP1
- Renpenning's Syndrome
FLVCR2
- Fowler's Syndrome
IFIH1
- Singleton Merten Syndrome
MTHFR
- Tethered Spinal Cord Syndrome
- Familial Isolated Vitamin E Deficiency
PAX3
- Tethered Spinal Cord Syndrome
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
STAT6
- Hemangiopericytoma
IL6
- Argininosuccinic Aciduria
- Toxoplasmosis
- Aseptic Meningitis
- Irritant Contact Dermatitis
- Familial Isolated Vitamin E Deficiency
NAB2
- Hemangiopericytoma
PDGFRA
- Tethered Spinal Cord Syndrome
VANGL2
- Tethered Spinal Cord Syndrome
CCL2
- Tethered Spinal Cord Syndrome
- Toxoplasmosis
QDPR
- Phenylketonuria (Pku)
PCMT1
- Tethered Spinal Cord Syndrome
CFL1
- Tethered Spinal Cord Syndrome
PON1
- Tethered Spinal Cord Syndrome