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Diseases
Genes (404)
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MLC1
Megalencephalic Leukoencephalopathy With Subcortical Cysts
AFG3L2
Spinocerebellar Ataxia Type 28
Spastic Paraplegia 7
PAX3
Waardenburg Syndrome Type I
ABCA1
Tangier Disease
OTOF
Otof-Related Deafness
DCN
Congenital Stromal Corneal Dystrophy
TREX1
Aicardi-Goutières Syndrome
PMM2
Pmm2 Deficiency
ALX4
Enlarged Parietal Foramina
MSX2
Enlarged Parietal Foramina
ADAR
Aicardi-Goutières Syndrome
SAMHD1
Aicardi-Goutières Syndrome
TAF1
X-Linked Dystonia-Parkinsonism
FTL
Neuroferritinopathy
SMARCA2
Nicolaides-Baraitser Syndrome
SPTLC1
Sptlc1-Related Hereditary Sensory Neuropathy
SPART
Troyer Syndrome
ADNP
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
DARS2
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement And Lactate Elevation
PRPS1
Arts Syndrome