Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of extrapyramidal motor function (HP:0002071)help
..Starting node
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Exaggerated startle response (HP:0002267)help
Term ID: 2267
Name: Exaggerated startle response
Synonym: Exaggerated acoustic startle response; Hyperekplexia; Increased startle response
Definition: An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
Comments:
Reference: HP:0002267
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAthetoid cerebral palsy (HP:0011445) help
..expandBradykinesia (HP:0002067) help
..expandExtrapyramidal dyskinesia (HP:0007308) help
..expandExtrapyramidal muscular rigidity (HP:0007076) help
..expandParkinsonism (HP:0001300) help
..expandProgressive extrapyramidal movement disorder (HP:0007153) 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:0002267HP:0002267Exaggerated startle response0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0002267HP:0002267Exaggerated startle response0ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndromeHP:0040282 - Frequent45
HP:0002267HP:0002267Exaggerated startle response0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0002267HP:0002267Exaggerated startle response0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002267HP:0002267Exaggerated startle response0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4HP:0040283 - Occasional184
HP:0002267HP:0002267Exaggerated startle response0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0002267HP:0002267Exaggerated startle response0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0002267HP:0002267Exaggerated startle response0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0002267HP:0002267Exaggerated startle response0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0002267HP:0002267Exaggerated startle response0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0002267HP:0002267Exaggerated startle response0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002267HP:0002267Exaggerated startle response0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0002267HP:0002267Exaggerated startle response0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0002267HP:0002267Exaggerated startle response0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002267HP:0002267Exaggerated startle response0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0002267HP:0002267Exaggerated startle response0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0002267HP:0002267Exaggerated startle response0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0002267HP:0002267Exaggerated startle response0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002267HP:0002267Exaggerated startle response0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002267HP:0002267Exaggerated startle response0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0002267HP:0002267Exaggerated startle response0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 3.81
HP:0002267HP:0002267Exaggerated startle response0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0002267HP:0002267Exaggerated startle response0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002267HP:0002267Exaggerated startle response0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0002267HP:0002267Exaggerated startle response0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0002267HP:0002267Exaggerated startle response0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0002267HP:0002267Exaggerated startle response0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC


Genes (22) :ARHGEF9 ASNS DDC FKTN FLRT1 GLB1 GLRA1 GLRB GM2A GPHN HEXB KLC2 MTHFS PLAA PURA SLC6A5 SLC6A9 SOD1 TNIK TRAK1 TSPYL1 ZMYM2

Diseases (25) :OMIM:300607 ORPHA:163985 OMIM:615574 OMIM:608643 OMIM:253800 ORPHA:320406 ORPHA:79255 OMIM:149400 OMIM:614619 ORPHA:309246 OMIM:272750 OMIM:268800 ORPHA:309155 OMIM:609541 OMIM:618367 OMIM:617527 ORPHA:521426 ORPHA:438216 OMIM:614618 OMIM:617301 OMIM:618598 OMIM:617028 OMIM:618201 OMIM:608800 OMIM:619522
 

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