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CHM
- Choroideremia
ABHD5
- Cerebral Creatine Deficiency
VPS33B
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
VIPAS39
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
RAB3GAP1
- Warburg Micro Syndrome 3
MTM1
- X-Linked Myotubular Myopathy
MED12
- Fg Syndrome
RAB18
- Warburg Micro Syndrome 3
RAB3GAP2
- Warburg Micro Syndrome 3
MRPS34
- Combined Oxidative Phosphorylation Deficiency 32
TBC1D20
- Warburg Micro Syndrome 3
SRD5A2
- Alopecia, Androgenetic, 1
WWTR1
- Epithelioid Hemangioendothelioma
- Hemangioendothelioma
TFE3
- Vascular Tumor
- Epithelioid Hemangioendothelioma
CAMTA1
- Epithelioid Hemangioendothelioma
- Hemangioendothelioma
AR
- Alopecia, Androgenetic, 1
YAP1
- Epithelioid Hemangioendothelioma
DNM2
- X-Linked Myotubular Myopathy
OCRL
- Oculocerebrorenal Syndrome