All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06906 DEE encephalopathy, developmental and epileptic - - 269 261 ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, NEUROD2, NTRK2, TMEM63B - -
04449 DEE31A;EIEE31 developmental and epileptic encephalopathy, type 31A 616346 AD 4 - DNM1 - -
07120 DEE31B developmental and epileptic encephalopathy, type 31B 602377 AR - - DNM1 - -
03624 EMPF encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) - - 10 9 DNM1L, MFF - -
05550 EMPF1 encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF-1) 614388 AD;AR - - DNM1L - -
05684 neuropathy, optic neuropathy, optic - - 314 298 ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1 - -
04293 OPA atrophy, optic (OPA) - - 1065 966 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, SSBP1, TMEM126A, YME1L1 - -
05499 OPA5 atrophy, optic, type 5 (OPA-5) 610708 AD - - DNM1L - autosomal dominant
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