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Advanced Download Gene List

ACO2
- Infantile Cerebellar Retinal Degeneration
- Infantile Cerebellar-Retinal Degeneration
SOX10
- Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
- Unibrow
SLC4A1
- Renal Tubular Acidosis, Distal, Autosomal Dominant
CLIC5
- Deafness, Autosomal Recessive 103
ALDH5A1
- Succinic Semialdehyde Dehydrogenase Deficiency
SRY
- Xy Gonadal Dysgenesis
NR5A1
- Xy Gonadal Dysgenesis
HIBCH
- 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
SOX9
- Xy Gonadal Dysgenesis
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
DHH
- Xy Gonadal Dysgenesis
WT1
- Xy Gonadal Dysgenesis
ATP6V0A4
- Renal Tubular Acidosis, Distal, Autosomal Dominant
CBX2
- Xy Gonadal Dysgenesis
ATP6V1B1
- Renal Tubular Acidosis, Distal, Autosomal Dominant
CNTNAP2
- Language Disorder
- Aura (Symptom)
TERT
- Acral Lentiginous Melanoma
GRIN2B
- Language Disorder
- Unibrow
- Aura (Symptom)