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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Abnormal head movements (HP:0002457)help
Term ID: 2457
Name: Abnormal head movements
Synonym: Abnormal head movements
Definition:
Comments:
Reference: HP:0002457
Genes and Diseases:
 
       Child Nodes:
........expandHead titubation (HP:0002599) help
........expandJerky head movements (HP:0006961) help

 Sister Nodes: 
..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
..expandInvoluntary movements (HP:0004305) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002457HP:0002457Abnormal head movements0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002457HP:0002457Abnormal head movements0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002457HP:0002457Abnormal head movements0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002457HP:0002457Abnormal head movements0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0002457HP:0002457Abnormal head movements0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0002457HP:0002457Abnormal head movements0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0002457HP:0002457Abnormal head movements0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002457HP:0002457Abnormal head movements0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0002457HP:0002457Abnormal head movements0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002457HP:0002457Abnormal head movements0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0002457HP:0002457Abnormal head movements0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0002457HP:0002457Abnormal head movements0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0002457HP:0002457Abnormal head movements0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0002457HP:0002457Abnormal head movements0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002457HP:0002457Abnormal head movements0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0002457HP:0002457Abnormal head movements0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0002457HP:0002457Abnormal head movements0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0002457HP:0002457Abnormal head movements0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0002457HP:0002457Abnormal head movements0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0002457HP:0002457Abnormal head movements0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0002457HP:0002457Abnormal head movements0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002457HP:0002457Abnormal head movements0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0002457HP:0002457Abnormal head movements0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0002457HP:0002457Abnormal head movements0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0002457HP:0002457Abnormal head movements0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0002457HP:0002457Abnormal head movements0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002457HP:0002457Abnormal head movements0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0002457HP:0002457Abnormal head movements0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002457HP:0002457Abnormal head movements0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002457HP:0002457Abnormal head movements0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002457HP:0002457Abnormal head movements0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0002457HP:0002457Abnormal head movements0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002457HP:0002457Abnormal head movements0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002457HP:0002457Abnormal head movements0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002457HP:0002457Abnormal head movements0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002457HP:0002457Abnormal head movements0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002457HP:0002457Abnormal head movements0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 12
HP:0002457HP:0002457Abnormal head movements0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002457HP:0002599Head titubation1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002457HP:0002599Head titubation1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002457HP:0002599Head titubation1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002457HP:0006961Jerky head movements1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare75
HP:0002457HP:0006961Jerky head movements1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002457HP:0002599Head titubation1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002457HP:0002599Head titubation1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002457HP:0006961Jerky head movements1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare134
HP:0002457HP:0006961Jerky head movements1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare57
HP:0002457HP:0006961Jerky head movements1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare139
HP:0002457HP:0002599Head titubation1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002457HP:0002599Head titubation1HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040284 - Very rare32
HP:0002457HP:0006961Jerky head movements1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare
HP:0002457HP:0002599Head titubation1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002457HP:0002599Head titubation1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0002457HP:0002599Head titubation1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002457HP:0006961Jerky head movements1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0002457HP:0002599Head titubation1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0002457HP:0002599Head titubation1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0002457HP:0002599Head titubation1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002457HP:0006961Jerky head movements1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002457HP:0002599Head titubation1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002457HP:0006961Jerky head movements1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002457HP:0002599Head titubation1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002457HP:0006961Jerky head movements1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare255
HP:0002457HP:0002599Head titubation1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002457HP:0002599Head titubation1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002457HP:0002599Head titubation1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002457HP:0002599Head titubation1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002457HP:0002599Head titubation1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002457HP:0006961Jerky head movements1VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0002457HP:0002599Head titubation1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (36) :AARS1 ALS2 CACNA1A CACNA1H DLAT EIF2AK2 FMR1 FUS GABRA1 GABRB3 GABRG2 GAMT GJC2 GPR88 HIBCH JRK KIF1C LAMA1 LMNB1 MAPT NAA10 NKX6-2 PEX10 PI4KA PIGT PLP1 PRNP SIGMAR1 SLC2A1 SPG11 SPTBN1 SPTLC1 TMEM63A UCHL1 VAMP1 VPS13A

Diseases (29) :OMIM:619691 OMIM:205100 ORPHA:300605 ORPHA:71518 ORPHA:64280 OMIM:245348 OMIM:618877 OMIM:300624 ORPHA:382 OMIM:608804 OMIM:616939 ORPHA:88639 OMIM:611302 ORPHA:370022 ORPHA:99027 ORPHA:240103 ORPHA:276432 ORPHA:527497 OMIM:617560 ORPHA:247815 OMIM:619708 ORPHA:369837 OMIM:312080 ORPHA:157941 OMIM:619475 OMIM:618688 OMIM:615491 ORPHA:251282 ORPHA:2388
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.