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
Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticusInfantile spasmsNeonatal seizuresDravet syndromeEpilepsyAtaxiaDystoniaChoreaHypotoniaSpasticityMyoclonusMicrocephalyMacrocephalyMegalencephalyAbnl brain morphologyAbnl CCVentriculomegalyPeripheral neuropathyMuscle weaknessHSPCMT/HMSNSpinocerebellar ataxiaMuscular dystrophyLeukodystrophyLissencephalyPolymicrogyriaNystagmusSNHLCVI