Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Involuntary movements (HP:0004305)help
Term ID: 4305
Name: Involuntary movements
Synonym: Involuntary movements; Involuntary muscle contractions
Definition: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Comments:
Reference: HP:0004305
Genes and Diseases:
 
       Child Nodes:
........expandStereotypy (HP:0000733) help
................... HP:0001483 Eye poking
................... HP:0008762 Repetitive compulsive behavior
................... HP:0012171 Stereotypical hand wringing
................... HP:0012172 Stereotypical body rocking
................... HP:0030218 Punding
................... HP:0100023 Recurrent hand flapping
................... HP:0100703 Tongue thrusting
........expandMyoclonus (HP:0001336) help
................... HP:0003739 Myoclonic spasms
................... HP:0007000 Morning myoclonic jerks
................... HP:0010530 Palatal myoclonus
................... HP:0010531 Spinal myoclonus
................... HP:0012323 Sleep myoclonus
................... HP:0012462 Chin myoclonus
................... HP:0025097 Eyelid myoclonus
................... HP:0025357 Erratic myoclonus
................... HP:0040148 Cortical myoclonus
................... HP:0045084 Limb myoclonus
........expandTremor (HP:0001337) help
................... HP:0002322 Resting tremor
................... HP:0002345 Action tremor
................... HP:0030188 Tremor by anatomical site
................... HP:0030665 Rubral tremor
........expandChorea (HP:0002072) help
................... HP:0001266 Choreoathetosis
........expandClonus (HP:0002169) help
................... HP:0011448 Ankle clonus
................... HP:0011449 Knee clonus
................... HP:0011728 Elbow clonus
........expandAthetosis (HP:0002305) help
........expandFasciculations (HP:0002380) help
................... HP:0001308 Tongue fasciculations
................... HP:0007089 Facial-lingual fasciculations
................... HP:0007289 Limb fasciculations
........expandParoxysmal dyskinesia (HP:0007166) help
........expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
........expandIntermittent painful muscle spasms (HP:0011964) help
........expandTics (HP:0100033) help
................... HP:0100034 Motor tics
................... HP:0100035 Phonic tics
........expandHemiballismus (HP:0100248) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004305HP:0004305Involuntary movements0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0004305Involuntary movements0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0004305Involuntary movements0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0004305Involuntary movements0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0032506Alien limb phenomenon1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0001337Tremor1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002169Clonus1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007166Paroxysmal dyskinesia1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100248Hemiballismus1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002072Chorea1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0031990Chvostek sign1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002380Fasciculations1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002305Athetosis1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0000733Stereotypy1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0001336Myoclonus1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100033Tics1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100248Hemiballismus1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002169Clonus1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007166Paroxysmal dyskinesia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002380Fasciculations1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002072Chorea1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0031990Chvostek sign1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0000733Stereotypy1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0001336Myoclonus1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100033Tics1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002305Athetosis1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0032506Alien limb phenomenon1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0001337Tremor1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002072Chorea1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0031990Chvostek sign1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002380Fasciculations1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100033Tics1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002305Athetosis1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0000733Stereotypy1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0001336Myoclonus1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0032506Alien limb phenomenon1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0001337Tremor1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002169Clonus1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007166Paroxysmal dyskinesia1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100248Hemiballismus1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100248Hemiballismus1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002169Clonus1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0007166Paroxysmal dyskinesia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002380Fasciculations1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002072Chorea1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0031990Chvostek sign1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0000733Stereotypy1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0001336Myoclonus1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0100033Tics1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002305Athetosis1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0032506Alien limb phenomenon1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0001337Tremor1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0000733Stereotypy1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0001336Myoclonus1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100033Tics1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002305Athetosis1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0032506Alien limb phenomenon1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0001337Tremor1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100248Hemiballismus1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002169Clonus1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007166Paroxysmal dyskinesia1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002380Fasciculations1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002072Chorea1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0031990Chvostek sign1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007000Morning myoclonic jerks2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0031986Polyminimyoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0011728Elbow clonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100023Recurrent hand flapping2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0001308Tongue fasciculations2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100703Tongue thrusting2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0045084Limb myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100035Phonic tics2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0001266Choreoathetosis2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0010530Palatal myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007089Facial-lingual fasciculations2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030218Punding2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002322Resting tremor2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0040148Cortical myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0012171Stereotypical hand wringing2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0100034Motor tics2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0010531Spinal myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0001483Eye poking2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0012462Chin myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0012172Stereotypical body rocking2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007289Limb fasciculations2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030188Tremor by anatomical site2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0025097Eyelid myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0003739Myoclonic spasms2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002345Action tremor2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0012323Sleep myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0011449Knee clonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0008762Repetitive compulsive behavior2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0011448Ankle clonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030665Rubral tremor2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0025357Erratic myoclonus2DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007089Facial-lingual fasciculations2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030218Punding2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002322Resting tremor2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0040148Cortical myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0012171Stereotypical hand wringing2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0045084Limb myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100035Phonic tics2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0001266Choreoathetosis2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0010530Palatal myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0001483Eye poking2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0012462Chin myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0012172Stereotypical body rocking2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007289Limb fasciculations2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030188Tremor by anatomical site2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0025097Eyelid myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100034Motor tics2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0010531Spinal myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0008762Repetitive compulsive behavior2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0011448Ankle clonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030665Rubral tremor2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0025357Erratic myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0003739Myoclonic spasms2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002345Action tremor2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0012323Sleep myoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0011449Knee clonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100023Recurrent hand flapping2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0001308Tongue fasciculations2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100703Tongue thrusting2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007000Morning myoclonic jerks2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0031986Polyminimyoclonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0011728Elbow clonus2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0100034Motor tics2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0010531Spinal myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0001483Eye poking2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0012462Chin myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0012172Stereotypical body rocking2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007289Limb fasciculations2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030188Tremor by anatomical site2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0025097Eyelid myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0003739Myoclonic spasms2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002345Action tremor2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0012323Sleep myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0011449Knee clonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0008762Repetitive compulsive behavior2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0011448Ankle clonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030665Rubral tremor2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0025357Erratic myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007000Morning myoclonic jerks2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0031986Polyminimyoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0011728Elbow clonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100023Recurrent hand flapping2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0001308Tongue fasciculations2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100703Tongue thrusting2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0045084Limb myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0100035Phonic tics2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0001266Choreoathetosis2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0010530Palatal myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007089Facial-lingual fasciculations2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030218Punding2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002322Resting tremor2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0040148Cortical myoclonus2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0012171Stereotypical hand wringing2PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007089Facial-lingual fasciculations2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030218Punding2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002322Resting tremor2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0040148Cortical myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0012171Stereotypical hand wringing2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0045084Limb myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0100035Phonic tics2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0001266Choreoathetosis2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0010530Palatal myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0001483Eye poking2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0012462Chin myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0012172Stereotypical body rocking2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0007289Limb fasciculations2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030188Tremor by anatomical site2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0025097Eyelid myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0100034Motor tics2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0010531Spinal myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0011449Knee clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0008762Repetitive compulsive behavior2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0011448Ankle clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030665Rubral tremor2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0025357Erratic myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0003739Myoclonic spasms2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002345Action tremor2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0012323Sleep myoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0100023Recurrent hand flapping2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0001308Tongue fasciculations2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0100703Tongue thrusting2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0007000Morning myoclonic jerks2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0031986Polyminimyoclonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0011728Elbow clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0008762Repetitive compulsive behavior2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0011448Ankle clonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030665Rubral tremor2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0025357Erratic myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0003739Myoclonic spasms2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002345Action tremor2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0012323Sleep myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0011449Knee clonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100023Recurrent hand flapping2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0001308Tongue fasciculations2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100703Tongue thrusting2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007000Morning myoclonic jerks2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0031986Polyminimyoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0011728Elbow clonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007089Facial-lingual fasciculations2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030218Punding2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002322Resting tremor2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0040148Cortical myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0012171Stereotypical hand wringing2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0045084Limb myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100035Phonic tics2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0001266Choreoathetosis2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0010530Palatal myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0001483Eye poking2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0012462Chin myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0012172Stereotypical body rocking2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007289Limb fasciculations2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030188Tremor by anatomical site2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0025097Eyelid myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0100034Motor tics2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0010531Spinal myoclonus2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002346Head tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007098Paroxysmal choreoathetosis3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0032507Labiomental fasciculations3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0025387Pill-rolling tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0033054Myoclonic tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0031947Tongue tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030186Kinetic tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030187Titubation3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002378Hand tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0032006Lip tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0010828Hemifacial spasm3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030185Isometric tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0012477Vocal tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0200085Limb tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007326Progressive choreoathetosis3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002174Postural tremor3DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030187Titubation3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002378Hand tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0031947Tongue tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030186Kinetic tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0012477Vocal tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0032006Lip tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0010828Hemifacial spasm3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030185Isometric tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0200085Limb tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007326Progressive choreoathetosis3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002174Postural tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0032507Labiomental fasciculations3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0025387Pill-rolling tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0033054Myoclonic tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002346Head tremor3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007098Paroxysmal choreoathetosis3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0032006Lip tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0010828Hemifacial spasm3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030185Isometric tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0012477Vocal tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0200085Limb tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007326Progressive choreoathetosis3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002174Postural tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002346Head tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007098Paroxysmal choreoathetosis3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0032507Labiomental fasciculations3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0025387Pill-rolling tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0033054Myoclonic tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0031947Tongue tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030186Kinetic tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030187Titubation3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002378Hand tremor3PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030187Titubation3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002378Hand tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0031947Tongue tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030186Kinetic tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0012477Vocal tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0032006Lip tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0010828Hemifacial spasm3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030185Isometric tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0200085Limb tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0007326Progressive choreoathetosis3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002174Postural tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0032507Labiomental fasciculations3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0025387Pill-rolling tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0033054Myoclonic tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002346Head tremor3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0007098Paroxysmal choreoathetosis3PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0200085Limb tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007326Progressive choreoathetosis3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002174Postural tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0032507Labiomental fasciculations3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0025387Pill-rolling tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0033054Myoclonic tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002346Head tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007098Paroxysmal choreoathetosis3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030187Titubation3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002378Hand tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0031947Tongue tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030186Kinetic tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0012477Vocal tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0032006Lip tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0010828Hemifacial spasm3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0030185Isometric tremor3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002080Intention tremor4DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0002599Head titubation4DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007351Upper limb postural tremor4DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0030147Truncal titubation4DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM169514677602635
HP:0004305HP:0007351Upper limb postural tremor4GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0030147Truncal titubation4GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002599Head titubation4GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0002080Intention tremor4GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0004305HP:0007351Upper limb postural tremor4PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0030147Truncal titubation4PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002080Intention tremor4PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0002599Head titubation4PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM116923719611801
HP:0004305HP:0007351Upper limb postural tremor4PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030147Truncal titubation4PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002599Head titubation4PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0002080Intention tremor4PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0004305HP:0030147Truncal titubation4SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002599Head titubation4SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0002080Intention tremor4SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0004305HP:0007351Upper limb postural tremor4SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (747) :AARS AARS2 ABCA7 ABCB6 ABCB7 ABHD12 ACAT2 ACO2 ADA2 ADAMTS13 ADAR ADCY5 ADGRG1 ADNP ADPRHL2 ADRA2B ADSL AFG3L2 AHI1 AIFM1 AKT1 ALDH18A1 AMACR AMPD2 AMT ANO10 ANO3 ANOS1 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APP APTX AR ARID2 ARL13B ARL3 ARMC9 ARSA ARV1 ARX ASAH1 ATAD1 ATCAY ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6 ATP6AP2 ATP6V1A ATP7A ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B9D1 BAZ1B BCR BEAN1 BICD2 BOLA3 BRAF BRAT1 BSCL2 C12ORF65 C19ORF12 C9ORF72 CA8 CACNA1A CACNA1B CACNA1D CACNA1E CACNA1G CACNA1S CACNB4 CAMTA1 CAPN1 CARS2 CASR CAV1 CC2D2A CCDC141 CCDC88A CCDC88C CCT5 CD28 CDH23 CDKL5 CEP104 CEP120 CEP126 CEP41 CERS1 CHAMP1 CHCHD10 CHCHD2 CHD1 CHD2 CHD3 CHD7 CHMP1A CHMP2B CIZ1 CLCN2 CLCN7 CLIP2 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNPY3 CNTN2 CNTNAP2 COL4A3BP COL6A3 COQ2 COQ8A COX1 COX2 COX3 CP CPLANE1 CPLX1 CRAT CREBBP CRKL CSPP1 CSTB CTBP1 CTC1 CTDP1 CTLA4 CTNND2 CTSF CUL4B CUX2 CWF19L1 CYFIP2 CYP27A1 CYP7B1 CYTB DAB1 DARS2 DCAF17 DCC DCTN1 DDC DDOST DEAF1 DENND5A DHDDS DHFR DHX30 DLAT DNAJC13 DNAJC19 DNAJC5 DNAJC6 DNM1 DNMT1 DPAGT1 DPM1 DRD2 DUSP6 DYRK1A EBF3 EEF1A2 EFHC1 EHMT1 EIF4G1 ELN ELOVL4 ELOVL5 ELP2 EP300 EPM2A EPRS ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN1 EXOSC3 EXOSC9 FA2H FAM126A FARS2 FBXL4 FBXO38 FBXO7 FEZF1 FGF12 FGF14 FGF17 FGF8 FGFR1 FGFRL1 FH FLCN FLII FLRT3 FLVCR1 FMR1 FOXG1 FOXP1 FOXRED1 FRMPD4 FRRS1L FTL FUS FXN GABRA1 GABRA3 GABRB2 GABRB3 GABRD GABRG2 GALT GAMT GATAD2B GBA GBA2 GCDH GCH1 GCK GCSH GGT1 GIGYF2 GJB1 GJC2 GLA GLDC GLRA1 GLRB GLRX5 GLYCTK GM2A GNA11 GNAO1 GNAS GOSR2 GPAA1 GPHN GPR88 GPT2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GRN GSS GTF2I GTF2IRD1 GTPBP2 GUCY2D GUF1 HCFC1 HCN1 HDAC4 HECW2 HESX1 HEXB HIBCH HIKESHI HINT1 HMGA2 HMGCL HNF1A HNF4A HNRNPA1 HNRNPA2B1 HPCA HPRT1 HS6ST1 HSD17B10 HSPB1 HSPD1 HTRA2 HTT HYLS1 ICK IFIH1 IFRD1 IL17RD INPP5E IQSEC2 IRF2BPL ITM2B ITPA ITPR1 JPH3 JRK KCNA1 KCNA2 KCNAB2 KCNB1 KCNC1 KCNC3 KCND3 KCNJ10 KCNJ18 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD17 KCTD7 KIAA0556 KIAA0586 KIAA0753 KIF1A KIF1B KIF1C KIF5A KIF7 KISS1R KMT2A KMT2B KPTN KYNU LEMD3 LETM1 LIAS LIMK1 LMNB1 LMNB2 LNPK LRPPRC LRRK2 LRSAM1 LYST MAG MAOA MAPK1 MAPK10 MAPT MARS MAX MBD5 MDH2 MECP2 MECR MED17 MEF2C MEN1 MFN2 MGAT2 MICOS13 MICU1 MKS1 MMAA MMACHC MME MMUT MOCS1 MOCS2 MORC2 MPZ MRE11 MRPS34 MSTO1 MTFMT MTM1 MTPAP MYH14 MYO5A MYOT NAA10 NACC1 NADK2 NAGA NAT8L NAXE ND1 ND2 ND4 ND4L ND5 ND6 NDE1 NDP NDUFA1 NDUFA13 NDUFA9 NDUFAF3 NDUFAF5 NDUFS2 NDUFV1 NECAP1 NEU1 NEXMIF NGLY1 NHLRC1 NIPA1 NKX2-1 NKX6-2 NLGN4X NME1 NOL3 NONO NOP56 NPC2 NPHP1 NR4A2 NSD2 NSMF NTRK2 NUP62 NUS1 OCRL OFD1 OPA1 OPA3 OPTN OSTM1 PAH PANK2 PARK7 PC PCBD1 PCDH19 PDE10A PDE6D PDGFB PDGFRB PDHA1 PDK3 PDYN PEX10 PEX2 PEX6 PFN1 PGAP1 PGAP3 PGM3 PHACTR1 PHGDH PIBF1 PIGA PIGN PIGT PIGV PIK3CA PIK3R5 PINK1 PITX3 PLA2G6 PLCB1 PLP1 PLPBP PMP22 PMPCA PNKD PNP PNPLA2 PNPLA6 PNPO PNPT1 PODXL POLG POLG2 POLR1C POLR3A POLR3B POMGNT1 PPP1R15B PPP2R2B PPP3CA PPT1 PRDM16 PRDM8 PRDX1 PRICKLE1 PRKCG PRKN PRKRA PRNP PRODH PROK2 PROKR2 PRPS1 PRRT2 PRUNE1 PSAP PSEN1 PSEN2 PTEN PTS PUF60 PUM1 PURA QDPR QRICH1 RAB11B RAB18 RAB39B RAB3GAP2 RAC1 RAI1 RARS REEP1 REEP2 RERE RET RFC2 RFT1 RHOBTB2 RLIM RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU12 RORA RPE65 RPGRIP1L RRM2B RTN2 RYR1 SACS SAMD12 SAMD9L SAMHD1 SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCP2 SCYL1 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEMA3A SEPSECS SERPINI1 SETX SFXN4 SGCE SH3TC2 SHANK3 SIK1 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC1A2 SLC20A2 SLC25A15 SLC25A22 SLC25A4 SLC25A46 SLC2A1 SLC30A10 SLC30A9 SLC33A1 SLC39A14 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLC6A17 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC9A1 SLC9A6 SLITRK1 SMC1A SMN1 SMPD1 SNCA SNCAIP SNORD118 SNRPN SNX10 SOD1 SORL1 SOX10 SOX5 SPART SPAST SPG11 SPR SPRY4 SPTAN1 SPTBN2 SQSTM1 ST3GAL3 ST3GAL5 STAMBP STUB1 STX16 STXBP1 SUCLA2 SUOX SYNGAP1 SYNJ1 SYT1 SZT2 TACR3 TAF1 TANGO2 TARDBP TAT TBC1D23 TBC1D24 TBCD TBK1 TBL2 TBP TBX1 TCIRG1 TCTN1 TCTN2 TCTN3 TENM4 TFG TGM6 TH THAP1 THOC2 TIMM50 TIMM8A TK2 TKT TMEM106B TMEM127 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TNFRSF1B TNFSF11 TNNT1 TOE1 TOMM40 TOR1A TPI1 TPP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TREM2 TREX1 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNW TSEN2 TSEN34 TSEN54 TSFM TSHR TSPYL1 TTC19 TTI2 TTPA TTR TUBB3 TUBB4A TWNK TXN2 TYROBP UBA1 UBA5 UBE3A UBQLN2 UBTF UCHL1 UFC1 UGT1A1 UQCRQ UROC1 USP8 VAMP1 VAPB VCP VHL VLDLR VPS13A VPS13C VPS13D VPS35 VPS37A VRK1 VWA3B WARS2 WASHC5 WDR11 WDR45 WDR81 WFS1 WHCR WWOX XPA XPNPEP3 XPR1 YWHAG YY1 ZFR ZFYVE26 ZFYVE27 ZNHIT3 ZSWIM6

Diseases (779) :617171 617820 615716 612067 615905 442835 616339 615889 1020 301310 614055 614559 820 182410 274150 225154 51 615010 324588 606703 615873 618170 86814 607876 103050 313772 614487 220493 475 101078 300816 447753 219150 616586 79095 614307 615809 605899 284289 613728 420485 478 280763 306511 324708 208920 99429 313200 617808 309271 250100 3451 159950 618011 3197 100 208900 101 125370 306674 314632 606693 565 277900 98755 164400 98756 183090 109150 164500 608768 250950 904 261330 217012 615290 614299 614498 363400 615924 615035 614298 275872 275864 401901 613227 617106 141500 614860 369929 615474 618285 616795 79102 616672 606721 1454 617507 139578 256840 3162 91347 300672 65684 616230 616579 615048 529965 2382 1942 618205 614961 614696 600795 420492 667 204200 256731 204300 600143 615400 610042 616351 139485 612016 550 48818 2754 352582 194190 617917 180849 254800 612199 604168 615362 85293 300354 618141 616127 909 363710 615945 611105 178509 168605 608643 300536 819 617281 617836 617804 162350 391411 615528 608093 608799 617330 1941 610253 133190 423296 617270 254780 617951 278760 278780 133540 216400 401785 615681 618065 614946 615575 171695 260300 29072 610883 261144 613454 613670 618241 300983 616981 157846 606159 608030 95 33069 617829 1606 79239 612736 615074 231000 233910 231950 101075 302800 301500 149400 614619 401866 220120 309246 272750 615473 617493 614018 617810 616939 477673 300699 617864 611092 614254 616139 613970 614831 617988 617065 309541 1001 268800 250620 616881 137200 94063 246450 324575 263455 52430 99657 224500 606595 617248 248111 143100 617435 176500 98934 606438 160120 98809 616366 616187 98768 607346 79137 609446 306 614959 616398 397946 611302 617235 319182 617284 615637 79155 614462 99027 616540 618090 220111 614436 167 214500 260540 172700 601104 228402 778 300260 300055 300673 617282 613668 228384 97279 609260 212066 401768 615673 251100 277400 617018 616688 251347 604391 502423 617675 614947 254343 397744 614369 33445 182920 300855 617393 79279 609241 614063 617186 605013 649 618240 618225 812 256550 85277 300912 615273 600363 118700 300495 256700 614937 300967 607625 220497 168600 617830 613886 617831 534 309000 2750 210000 258501 165300 259720 79254 216873 234200 266150 264070 494541 494526 616921 616922 213600 615483 610245 614867 614808 79351 280633 614080 239300 610623 199351 610217 612953 312080 617290 213200 98810 613179 98908 610717 79096 610090 726 70595 203700 607459 616494 253280 256730 324290 616640 612437 98763 600116 282166 157941 600072 137440 603218 123400 239500 99014 98811 31709 617481 139406 611721 610539 607822 261640 13 508488 617931 616158 261630 617807 300271 617751 182290 612015 618004 300978 614922 612951 618060 100993 324581 601068 46059 254900 682 521411 616719 252011 613811 604218 602433 606002 615578 159900 1935 616341 300523 604369 352649 618049 238970 616505 71277 53583 606777 612126 613280 171863 617013 201100 229050 97229 158580 616421 238455 613135 52503 300352 617301 85278 257200 168601 614561 209850 105400 313892 602099 616668 70594 612716 616437 617145 370938 609056 614261 615768 612164 612073 615530 618218 53351 314250 300966 616878 612069 28378 617695 352596 79500 615338 616439 98759 607136 1727 604484 101150 605407 602629 300957 617698 304700 617044 2752 98773 614052 98902 605355 614969 128100 615512 204500 618201 369847 369840 615356 617669 617862 2770 545000 612389 612390 225753 610505 168593 615157 615541 96 105210 300570 612438 271245 221770 617132 300857 617672 615491 618076 79234 615159 276880 401795 251282 182980 608627 329478 613954 2388 200150 607317 319199 614898 607596 617710 100989 329284 300894 610185 222300 617557 270700 260565 617865 606854 238329 304340 308350 100984 104290 71517 614820 644 363654 300423 300911 276244 276238 276241 115150 458803 307 488594 428 616710 98933 227510 308 100986 3464 241080 613839 245348 411602 66634 314404 36899 614104 278730 278800 614678 171629 612319 615471 300623 614409 25 231670 608804 79443 79444 94089 607485 204000 617268 324442 300322 300438 99940 612233 618088 37612 263516 610357 604187 67047 289916 79312 252150 252160 617664 431361 616034 301020 618249 618247 618238 610978 276198 614153 271930 67036 613435 606324 312170 615816 615398 64753 605909 614932 254892 254886 157640 98762 604326 614222 311510 610250 204100 604805 159550 601596 606232 601042 309854 617595 614707 211530 616291 137580 253400 271150 253550 253300 101000 275900 100985 604360 412057 272300 617193 608800 478029 301830 210128 329475 616840 278700 616413 610244 609153 101109 447757 447760 615034 104 535000 100998 289560 616411 98764 609307 614782 320391 352641 98808 128230 79299 98771 213300 616647 98769 206700 606658 459056 300615 401835 99947 596 100988 300905 95433 401820 118800 447896 607694 616817 210571 128200 602066 401830 401849 613724 218000 616269 616736 607454 284324 609270 99819 424 105830 613159 401840 100996 612674 615109 309263 94122 601238 314978 302500 98761 618056 98758 314647 423275 616053 464440 48431 453521 610532 88628 93256 1175 613206 266130 117300 208513 117360 612780 180800 527497 614871 615108 215470 264090 614381 158350 617982 438114 616140 512260 98 466794 352403 600224 615386 276193 613908 617964 98805 224050 616948
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.