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RASA1
- Klippel-Trenaunay-Weber Syndrome
- Parkes Weber Syndrome
- Parkes Weber Syndrome
ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
GNAQ
- Ventricular Tachycardia
- Parkes Weber Syndrome
IFIH1
- Singleton Merten Syndrome
GALE
- Galactose Epimerase Deficiency
TBX4
- Ischiopatellar Dysplasia
MAFB
- Duane Retraction Syndrome 3 With Or Without Deafness
RYR2
- Ventricular Tachycardia
ABCC9
- Ventricular Tachycardia
- Supraventricular Tachycardia
CASQ2
- Ventricular Tachycardia
ADSS1
- Myopathy, Distal, 5
CHN1
- Duane Retraction Syndrome 3 With Or Without Deafness
AGGF1
- Klippel-Trenaunay-Weber Syndrome
NUS1
- Congenital Disorder Of Glycosylation, Type Iaa
STX3
- Microvillus Inclusion Disease
CTNS
- Cystinosis
SCN5A
- Ventricular Tachycardia
- Supraventricular Tachycardia
SALL4
- Duane Retraction Syndrome 3 With Or Without Deafness