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Deep Research Advanced Download Gene List

ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
GALE
- Galactose Epimerase Deficiency
PAH
- Phenylketonuria (Pku)
AGGF1
- Klippel-Trenaunay-Weber Syndrome
SLC39A8
- Congenital Disorder Of Glycosylation, Type Iin
IFIH1
- Singleton Merten Syndrome
MAFB
- Duane Retraction Syndrome 3 With Or Without Deafness
ADSS1
- Myopathy, Distal, 5
CHN1
- Duane Retraction Syndrome 3 With Or Without Deafness
NUS1
- Congenital Disorder Of Glycosylation, Type Iaa
FREM1
- Trigonocephaly
KIAA1109
- Alkuraya-Kucinskas Syndrome
MUCL3
- Panbronchiolitis, Diffuse
CTNS
- Cystinosis
SALL4
- Duane Retraction Syndrome 3 With Or Without Deafness
XRCC1
- Spinocerebellar Ataxia, Autosomal Recessive 26
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
- Pectus Excavatum
DNAJC21
- Pectus Excavatum
- Bone Marrow Failure