DRED IDNameOMIMRepeat UnitRepeat LocationGene
RD00017Oculopharyngeal Muscular Dystrophy164300GCGCDSPABPN1
RD00018Synpolydactyly 1186000GCGCDSHOXD13
RD00019Hand-Foot-Genital Syndrome140000GCGCDSHOXA13
RD00020Epileptic Encephalopathy, Early Infantile, 1308350GCGCDSARX
RD00021Partington X-Linked Mental Retardation Syndrome309510GCGCDSARX
RD00022Central Hypoventilation Syndrome, Congenital209880GCGCDSPHOX2B
RD00023Holoprosencephaly 5609637GCGCDSZIC2
RD00024Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome110100GCGCDSFOXL2
RD00025Cleidocranial Dysplasia600211GCNCDSRUNX2
RD00026Mental Retardation, X-linked300123GCNCDSSOX3
RD00027Tetralogy of Fallot187500GCNCDSTBX1
RD00028Neuropathy, Hereditary Motor, With Myopathic Features619216GGCGCGGAGCCDSVWA1
RD00029Baratela-Scott syndrome615777GGCpromoterXYLT1
RD00030Spinocerebellar Ataxia 12604326CAG5' UTRPPP2R2B
RD00031Myoclonic Epilepsy of Unverricht and Lundborg254800CCCCGCCCCGCG5' UTRCSTB
RD00032Mental Retardation, X-Linked, Associated with Fragile Site Fraxe309548CCG5' UTRAFF2

© 2024 Database of repeat expansion diseases.
Data collected by OmicsLab, IGDB, CAS. All rights reserved.

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