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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Primitive reflex (HP:0002476)help
Term ID: 2476
Name: Primitive reflex
Synonym: Archaic reflex; Primitive reflexes
Definition: The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
Comments:
Reference: HP:0002476
Genes and Diseases:
 
       Child Nodes:
........expandPalmomental reflex (HP:0030902) help
........expandGrasp reflex (HP:0030903) help
........expandGlabellar reflex (HP:0030904) help
........expandSnout reflex (HP:0030905) help
........expandSuck reflex (HP:0030906) 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
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) 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:0002476HP:0002476Primitive reflex0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002476HP:0002476Primitive reflex0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0002476HP:0002476Primitive reflex0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002476HP:0002476Primitive reflex0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0002476HP:0002476Primitive reflex0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002476HP:0002476Primitive reflex0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0002476HP:0002476Primitive reflex0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0002476HP:0002476Primitive reflex0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0002476HP:0002476Primitive reflex0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0002476HP:0002476Primitive reflex0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0002476HP:0002476Primitive reflex0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0002476HP:0002476Primitive reflex0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002476HP:0002476Primitive reflex0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040284 - Very rare99
HP:0002476HP:0002476Primitive reflex0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040284 - Very rare60
HP:0002476HP:0002476Primitive reflex0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0002476HP:0002476Primitive reflex0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0002476HP:0002476Primitive reflex0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0002476HP:0002476Primitive reflex0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0002476HP:0002476Primitive reflex0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002476HP:0002476Primitive reflex0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002476HP:0002476Primitive reflex0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002476HP:0002476Primitive reflex0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0002476HP:0002476Primitive reflex0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002476HP:0002476Primitive reflex0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0002476HP:0002476Primitive reflex0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0002476HP:0002476Primitive reflex0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0002476HP:0002476Primitive reflex0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0002476HP:0002476Primitive reflex0SPG21 CL E G H5132420373OMIM:248900Mast syndromeHP:0040283 - Occasional28
HP:0002476HP:0002476Primitive reflex0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0002476HP:0002476Primitive reflex0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002476HP:0002476Primitive reflex0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0002476HP:0002476Primitive reflex0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002476HP:0032549Persistent asymmetrical tonic neck reflex1 CL E G H
HP:0002476HP:0030905Snout reflex1 CL E G H
HP:0002476HP:0030903Grasp reflex1AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0002476HP:0030902Palmomental reflex1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002476HP:0030904Glabellar reflex1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0002476HP:0030904Glabellar reflex1GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0002476HP:0030904Glabellar reflex1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0002476HP:0030902Palmomental reflex1MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0002476HP:0030906Suck reflex1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002476HP:0030906Suck reflex1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002476HP:0030903Grasp reflex1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002476HP:0030903Grasp reflex1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64


Genes (26) :AARS1 ALDH18A1 ATP13A2 CTSF DCTN1 DNAJC6 DNMT1 DPM2 GLRB GM2A HADHA HADHB JPH3 MAPT MME NDUFS8 NGLY1 PIEZO2 PIGA PSEN1 RAB18 SPG21 ST3GAL3 TREM2 TUBB3 TYROBP

Diseases (29) :OMIM:619661 ORPHA:447760 OMIM:606693 OMIM:615362 OMIM:168605 OMIM:615528 ORPHA:314404 OMIM:604121 OMIM:615042 OMIM:614619 ORPHA:309246 OMIM:272750 ORPHA:746 ORPHA:98934 OMIM:600274 OMIM:172700 OMIM:617018 OMIM:618222 ORPHA:404454 OMIM:615273 OMIM:248700 OMIM:301072 OMIM:614222 ORPHA:101001 OMIM:248900 OMIM:615006 OMIM:618193 ORPHA:300570 OMIM:221770
 

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