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ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
SALL4
- Duane-Radial Ray Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
SLC17A5
- Salla Disease
MC2R
- Familial Glucocorticoid Deficiency
STX3
- Microvillus Inclusion Disease
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
MRAP
- Familial Glucocorticoid Deficiency
FOXI1
- Enlarged Vestibular Aqueduct
KCNJ10
- Enlarged Vestibular Aqueduct
SLC26A4
- Enlarged Vestibular Aqueduct
WWTR1
- Epithelioid Hemangioendothelioma
CAMTA1
- Epithelioid Hemangioendothelioma
TFE3
- Epithelioid Hemangioendothelioma
YAP1
- Epithelioid Hemangioendothelioma
GNE
- Salla Disease
KDM3B
- Metal Toxicity
ABCC2
- Alopecia, Androgenetic, 1