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ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
TTPA
- Familial Isolated Vitamin E Deficiency
COL2A1
- Collagen, Type Ii, Alpha-1
- Cystic Hygroma
TMC6
- Epidermodysplasia Verruciformis
- Common Warts
PQBP1
- Renpenning's Syndrome
TMC8
- Epidermodysplasia Verruciformis
- Common Warts
IFIH1
- Singleton Merten Syndrome
CRH
- Alopecia, Androgenetic, 1
- Stereotypic Movement Disorder
PAH
- Phenylketonuria
SRD5A2
- Alopecia, Androgenetic, 1
IL7
- Epidermodysplasia Verruciformis
- Common Warts
CIB1
- Epidermodysplasia Verruciformis
- Common Warts
AR
- Alopecia, Androgenetic, 1
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MEF2C
- Stereotypic Movement Disorder
ZFP36
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
- Vascular Tumor
RHOH
- Epidermodysplasia Verruciformis
MTHFR
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
ABCC2
- Alopecia, Androgenetic, 1