Phenotype Search
Search by clinical finding, disease, or phenotype to find associated genes ranked by phenotype frequency, pathogenic variant evidence, and disease associations.
Searches HPO/Monarch, ClinVar, OMIM, and Open Targets for gene-phenotype associations
Common neurogenetics phenotypes
Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophyLeukodystrophyInfantile spasmsHemiplegic migraineMyoclonusMacrocephalyMegalencephalyMicrocephalyEpilepsyDystoniaHypotoniaAtaxiaDevelopmental regressionLissencephalyPolymicrogyriaNeonatal seizuresIntellectual disabilityStereotypiesProgressive spasticityHypertrichosisAbsent speechCVINystagmusSNHL