Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0004305 | HP:0004305 | Involuntary movements | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0004305 | Involuntary movements | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0004305 | Involuntary movements | 0 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0004305 | Involuntary movements | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0004305 | Involuntary movements | 0 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0032506 | Alien limb phenomenon | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0001337 | Tremor | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002169 | Clonus | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007166 | Paroxysmal dyskinesia | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100248 | Hemiballismus | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002072 | Chorea | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0031990 | Chvostek sign | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002380 | Fasciculations | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002305 | Athetosis | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0000733 | Stereotypy | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0001336 | Myoclonus | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100033 | Tics | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100248 | Hemiballismus | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002169 | Clonus | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007166 | Paroxysmal dyskinesia | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002380 | Fasciculations | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002072 | Chorea | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0031990 | Chvostek sign | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0000733 | Stereotypy | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0001336 | Myoclonus | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100033 | Tics | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002305 | Athetosis | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0032506 | Alien limb phenomenon | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0001337 | Tremor | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002072 | Chorea | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0031990 | Chvostek sign | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002380 | Fasciculations | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100033 | Tics | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002305 | Athetosis | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0000733 | Stereotypy | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0001336 | Myoclonus | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0032506 | Alien limb phenomenon | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0001337 | Tremor | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002169 | Clonus | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007166 | Paroxysmal dyskinesia | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100248 | Hemiballismus | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100248 | Hemiballismus | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002169 | Clonus | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0007166 | Paroxysmal dyskinesia | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002380 | Fasciculations | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002072 | Chorea | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0031990 | Chvostek sign | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0000733 | Stereotypy | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0001336 | Myoclonus | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0100033 | Tics | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002305 | Athetosis | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0032506 | Alien limb phenomenon | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0001337 | Tremor | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0000733 | Stereotypy | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0001336 | Myoclonus | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100033 | Tics | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002305 | Athetosis | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0032506 | Alien limb phenomenon | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0001337 | Tremor | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100248 | Hemiballismus | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002169 | Clonus | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007166 | Paroxysmal dyskinesia | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002380 | Fasciculations | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002072 | Chorea | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0031990 | Chvostek sign | 1 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007000 | Morning myoclonic jerks | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0031986 | Polyminimyoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0011728 | Elbow clonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100023 | Recurrent hand flapping | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0001308 | Tongue fasciculations | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100703 | Tongue thrusting | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0045084 | Limb myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100035 | Phonic tics | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0001266 | Choreoathetosis | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0010530 | Palatal myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007089 | Facial-lingual fasciculations | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030218 | Punding | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002322 | Resting tremor | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0040148 | Cortical myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0012171 | Stereotypical hand wringing | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0100034 | Motor tics | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0010531 | Spinal myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0001483 | Eye poking | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0012462 | Chin myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0012172 | Stereotypical body rocking | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007289 | Limb fasciculations | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030188 | Tremor by anatomical site | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0025097 | Eyelid myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0003739 | Myoclonic spasms | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002345 | Action tremor | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0012323 | Sleep myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0011449 | Knee clonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0008762 | Repetitive compulsive behavior | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0011448 | Ankle clonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030665 | Rubral tremor | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0025357 | Erratic myoclonus | 2 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007089 | Facial-lingual fasciculations | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030218 | Punding | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002322 | Resting tremor | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0040148 | Cortical myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0012171 | Stereotypical hand wringing | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0045084 | Limb myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100035 | Phonic tics | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0001266 | Choreoathetosis | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0010530 | Palatal myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0001483 | Eye poking | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0012462 | Chin myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0012172 | Stereotypical body rocking | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007289 | Limb fasciculations | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030188 | Tremor by anatomical site | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0025097 | Eyelid myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100034 | Motor tics | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0010531 | Spinal myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0008762 | Repetitive compulsive behavior | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0011448 | Ankle clonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030665 | Rubral tremor | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0025357 | Erratic myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0003739 | Myoclonic spasms | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002345 | Action tremor | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0012323 | Sleep myoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0011449 | Knee clonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100023 | Recurrent hand flapping | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0001308 | Tongue fasciculations | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100703 | Tongue thrusting | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007000 | Morning myoclonic jerks | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0031986 | Polyminimyoclonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0011728 | Elbow clonus | 2 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0100034 | Motor tics | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0010531 | Spinal myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0001483 | Eye poking | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0012462 | Chin myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0012172 | Stereotypical body rocking | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007289 | Limb fasciculations | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030188 | Tremor by anatomical site | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0025097 | Eyelid myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0003739 | Myoclonic spasms | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002345 | Action tremor | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0012323 | Sleep myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0011449 | Knee clonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0008762 | Repetitive compulsive behavior | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0011448 | Ankle clonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030665 | Rubral tremor | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0025357 | Erratic myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007000 | Morning myoclonic jerks | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0031986 | Polyminimyoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0011728 | Elbow clonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100023 | Recurrent hand flapping | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0001308 | Tongue fasciculations | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100703 | Tongue thrusting | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0045084 | Limb myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0100035 | Phonic tics | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0001266 | Choreoathetosis | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0010530 | Palatal myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007089 | Facial-lingual fasciculations | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030218 | Punding | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002322 | Resting tremor | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0040148 | Cortical myoclonus | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0012171 | Stereotypical hand wringing | 2 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007089 | Facial-lingual fasciculations | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030218 | Punding | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002322 | Resting tremor | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0040148 | Cortical myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0012171 | Stereotypical hand wringing | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0045084 | Limb myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0100035 | Phonic tics | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0001266 | Choreoathetosis | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0010530 | Palatal myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0001483 | Eye poking | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0012462 | Chin myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0012172 | Stereotypical body rocking | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0007289 | Limb fasciculations | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030188 | Tremor by anatomical site | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0025097 | Eyelid myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0100034 | Motor tics | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0010531 | Spinal myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0011449 | Knee clonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0008762 | Repetitive compulsive behavior | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0011448 | Ankle clonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030665 | Rubral tremor | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0025357 | Erratic myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0003739 | Myoclonic spasms | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002345 | Action tremor | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0012323 | Sleep myoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0100023 | Recurrent hand flapping | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0001308 | Tongue fasciculations | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0100703 | Tongue thrusting | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0007000 | Morning myoclonic jerks | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0031986 | Polyminimyoclonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0011728 | Elbow clonus | 2 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0008762 | Repetitive compulsive behavior | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0011448 | Ankle clonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030665 | Rubral tremor | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0025357 | Erratic myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0003739 | Myoclonic spasms | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002345 | Action tremor | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0012323 | Sleep myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0011449 | Knee clonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100023 | Recurrent hand flapping | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0001308 | Tongue fasciculations | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100703 | Tongue thrusting | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007000 | Morning myoclonic jerks | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0031986 | Polyminimyoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0011728 | Elbow clonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007089 | Facial-lingual fasciculations | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030218 | Punding | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002322 | Resting tremor | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0040148 | Cortical myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0012171 | Stereotypical hand wringing | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0045084 | Limb myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100035 | Phonic tics | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0001266 | Choreoathetosis | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0010530 | Palatal myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0001483 | Eye poking | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0012462 | Chin myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0012172 | Stereotypical body rocking | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007289 | Limb fasciculations | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030188 | Tremor by anatomical site | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0025097 | Eyelid myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0100034 | Motor tics | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0010531 | Spinal myoclonus | 2 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002346 | Head tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007098 | Paroxysmal choreoathetosis | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0032507 | Labiomental fasciculations | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0025387 | Pill-rolling tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0033054 | Myoclonic tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0031947 | Tongue tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030186 | Kinetic tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030187 | Titubation | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002378 | Hand tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0032006 | Lip tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0010828 | Hemifacial spasm | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030185 | Isometric tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0012477 | Vocal tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0200085 | Limb tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007326 | Progressive choreoathetosis | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002174 | Postural tremor | 3 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030187 | Titubation | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002378 | Hand tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0031947 | Tongue tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030186 | Kinetic tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0012477 | Vocal tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0032006 | Lip tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0010828 | Hemifacial spasm | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030185 | Isometric tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0200085 | Limb tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007326 | Progressive choreoathetosis | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002174 | Postural tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0032507 | Labiomental fasciculations | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0025387 | Pill-rolling tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0033054 | Myoclonic tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002346 | Head tremor | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007098 | Paroxysmal choreoathetosis | 3 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0032006 | Lip tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0010828 | Hemifacial spasm | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030185 | Isometric tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0012477 | Vocal tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0200085 | Limb tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007326 | Progressive choreoathetosis | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002174 | Postural tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002346 | Head tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007098 | Paroxysmal choreoathetosis | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0032507 | Labiomental fasciculations | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0025387 | Pill-rolling tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0033054 | Myoclonic tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0031947 | Tongue tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030186 | Kinetic tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030187 | Titubation | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002378 | Hand tremor | 3 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030187 | Titubation | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002378 | Hand tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0031947 | Tongue tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030186 | Kinetic tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0012477 | Vocal tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0032006 | Lip tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0010828 | Hemifacial spasm | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030185 | Isometric tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0200085 | Limb tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0007326 | Progressive choreoathetosis | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002174 | Postural tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0032507 | Labiomental fasciculations | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0025387 | Pill-rolling tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0033054 | Myoclonic tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002346 | Head tremor | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0007098 | Paroxysmal choreoathetosis | 3 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0200085 | Limb tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007326 | Progressive choreoathetosis | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002174 | Postural tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0032507 | Labiomental fasciculations | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0025387 | Pill-rolling tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0033054 | Myoclonic tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002346 | Head tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007098 | Paroxysmal choreoathetosis | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030187 | Titubation | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002378 | Hand tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0031947 | Tongue tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030186 | Kinetic tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0012477 | Vocal tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0032006 | Lip tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0010828 | Hemifacial spasm | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0030185 | Isometric tremor | 3 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002080 | Intention tremor | 4 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0002599 | Head titubation | 4 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007351 | Upper limb postural tremor | 4 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0030147 | Truncal titubation | 4 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 695 | 14677 | 602635 |
HP:0004305 | HP:0007351 | Upper limb postural tremor | 4 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0030147 | Truncal titubation | 4 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002599 | Head titubation | 4 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0002080 | Intention tremor | 4 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0004305 | HP:0007351 | Upper limb postural tremor | 4 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0030147 | Truncal titubation | 4 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002080 | Intention tremor | 4 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0002599 | Head titubation | 4 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 169 | 23719 | 611801 |
HP:0004305 | HP:0007351 | Upper limb postural tremor | 4 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030147 | Truncal titubation | 4 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002599 | Head titubation | 4 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0002080 | Intention tremor | 4 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0004305 | HP:0030147 | Truncal titubation | 4 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002599 | Head titubation | 4 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0002080 | Intention tremor | 4 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HP:0004305 | HP:0007351 | Upper limb postural tremor | 4 | SLC13A5 CL E G H | 284111 | 615905 | Epileptic encephalopathy, early infantile, 25 | 615905 | C4014621 | OMIM | 1 | | 685 | 23089 | 608305 |
HPO disease - gene - phenotype less frequent non-typical associations: |