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ABHD5
- Cerebral Creatine Deficiency
WRN
- Werner Syndrome
MYO5B
- Microvillus Inclusion Disease
BTK
- Neuroblastoma, Susceptibility To, 7
- Agammaglobulinemia, X-Linked
GAMT
- Guanidinoacetate Methyltransferase Deficiency
LIN28B
- Neuroblastoma, Susceptibility To, 7
PHOX2B
- Pinealoblastoma
- Neuroblastoma, Susceptibility To, 7
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
PITX3
- Anterior Segment Dysgenesis 1
- Neuroblastoma, Susceptibility To, 7
MYC
- Epithelioid Hemangioendothelioma
- Pinealoblastoma
- Werner Syndrome
- Neuroblastoma, Susceptibility To, 7
- Hyperuricemia
MYCN
- Pinealoblastoma
- Neuroblastoma, Susceptibility To, 7
- Trilateral Retinoblastoma
ALK
- Epithelioid Hemangioendothelioma
- Neuroblastoma, Susceptibility To, 7
LMO1
- Neuroblastoma, Susceptibility To, 7
MC2R
- Familial Glucocorticoid Deficiency
PIGA
- Paroxysmal Nocturnal Hemoglobinuria 1
YAP1
- Epithelioid Hemangioendothelioma
- Neuroblastoma, Susceptibility To, 7
HACE1
- Neuroblastoma, Susceptibility To, 7
HRAS
- Neuroblastoma, Susceptibility To, 7
XDH
- Hyperuricemia
HPRT1
- Neuroblastoma, Susceptibility To, 7
- Hyperuricemia
- Paroxysmal Nocturnal Hemoglobinuria 1