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ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
TTPA
- Familial Isolated Vitamin E Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
TMC6
- Epidermodysplasia Verruciformis
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
- Renpenning's Syndrome
TMC8
- Epidermodysplasia Verruciformis
MC2R
- Familial Glucocorticoid Deficiency
IFIH1
- Singleton Merten Syndrome
STX3
- Microvillus Inclusion Disease
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
VDR
- Alopecia, Androgenetic, 1
- Epidermoid Cysts
- Lumbar Disc Disease
RHOH
- Epidermodysplasia Verruciformis
IL7
- Epidermodysplasia Verruciformis
CIB1
- Epidermodysplasia Verruciformis
ZFP36
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
- Vascular Tumor