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ABHD5
- Cerebral Creatine Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
PQBP1
- Renpenning's Syndrome
FAM20A
- Enamel-Renal Syndrome
IFIH1
- Singleton Merten Syndrome
AGGF1
- Klippel-Trenaunay-Weber Syndrome
ASS1
- Citrullinemia Type I
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
PRKAR1A
- Alopecia, Androgenetic, 1
- Enamel-Renal Syndrome
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
ZFP36
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
- Vascular Tumor
IFNG
- Cerebral Creatine Deficiency
- Type Iii Hypersensitivity
- Vascular Tumor
- Cryptococcosis
SOST
- Klippel-Trenaunay-Weber Syndrome
- Craniodiaphyseal Dysplasia
MTHFR
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
BRD4
- Alopecia, Androgenetic, 1
- Cryptococcosis
DDX58
- Singleton Merten Syndrome
ABCC2
- Alopecia, Androgenetic, 1
SUPV3L1
- Alopecia, Androgenetic, 1