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ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
GJA1
- Neurodegeneration With Brain Iron Accumulation
- Oculodentodigital Dysplasia
- Status Epilepticus
CNR1
- Rhabdomyosarcoma
- Status Epilepticus
ABCC2
- Alopecia, Androgenetic, 1
- Status Epilepticus
PTCH1
- Oculodentodigital Dysplasia
- Rhabdomyosarcoma
VEGFA
- Alopecia, Androgenetic, 1
- Epithelioid Hemangioendothelioma
- Diverticulitis
- Rhabdomyosarcoma
- Bullous Pemphigoid
- Status Epilepticus
NRAS
- Neurocutaneous Melanosis
- Rhabdomyosarcoma
GRIA2
- Status Epilepticus
GALE
- Galactose Epimerase Deficiency
FBLN5
- Cutis Laxa
ELN
- Cutis Laxa
TNF
- Alopecia, Androgenetic, 1
- Rhabdomyosarcoma
- Bullous Pemphigoid
- Status Epilepticus
PYCR1
- Cutis Laxa
EFEMP2
- Cutis Laxa
MSTN
- Myostatin-Related Muscle Hypertrophy
- Rhabdomyosarcoma
IL1B
- Alopecia, Androgenetic, 1
- Cystinosis
- Bullous Pemphigoid
- Status Epilepticus
- Merrf Syndrome
CASP3
- Alopecia, Androgenetic, 1
- Rhabdomyosarcoma
- Bullous Pemphigoid
- Status Epilepticus
TRNL1
- Merrf Syndrome
WDR45
- Neurodegeneration With Brain Iron Accumulation