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ABHD5
- Cerebral Creatine Deficiency
RET
- Pheochromocytoma
ABCD1
- Adrenoleukodystrophy
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
SDHB
- Pheochromocytoma
- Uterine Fibroids
MAX
- Pheochromocytoma
VHL
- Pheochromocytoma
TMEM127
- Pheochromocytoma
SDHD
- Pheochromocytoma
KCNC3
- Spinocerebellar Ataxia Type-13
- Hippocampal Sclerosis
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
MC2R
- Familial Glucocorticoid Deficiency
GDNF
- Pheochromocytoma
TP53
- Pheochromocytoma
- Alopecia, Androgenetic, 1
- Disseminated Superficial Actinic Porokeratosis
- Uterine Fibroids
KIF1B
- Pheochromocytoma
TP63
- Uterine Fibroids
- Bladder Exstrophy
TSC2
- Uterine Fibroids
STX3
- Microvillus Inclusion Disease
HMGA2
- Uterine Fibroids