Human Phenotype Ontology 
Grandparent Node:
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Abnormal morphology of the musculature of the neck (HP:0011006)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Neck muscle weakness (HP:0000467)help
..Starting node
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Neck flexor weakness (HP:0003722)help
Term ID: 3722
Name: Neck flexor weakness
Synonym: Neck flexion weakness; Neck flexor muscle weakness
Definition: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
Comments:
Reference: HP:0003722
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003722HP:0003722Neck flexor weakness0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003722HP:0003722Neck flexor weakness0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003722HP:0003722Neck flexor weakness0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0003722HP:0003722Neck flexor weakness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003722HP:0003722Neck flexor weakness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003722HP:0003722Neck flexor weakness0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0003722HP:0003722Neck flexor weakness0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003722HP:0003722Neck flexor weakness0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0003722HP:0003722Neck flexor weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0003722HP:0003722Neck flexor weakness0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0003722HP:0003722Neck flexor weakness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003722HP:0003722Neck flexor weakness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003722HP:0003722Neck flexor weakness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003722HP:0003722Neck flexor weakness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003722HP:0003722Neck flexor weakness0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0003722HP:0003722Neck flexor weakness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003722HP:0003722Neck flexor weakness0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040283 - Occasional263
HP:0003722HP:0003722Neck flexor weakness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003722HP:0003722Neck flexor weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003722HP:0003722Neck flexor weakness0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0003722HP:0003722Neck flexor weakness0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003722HP:0003722Neck flexor weakness0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0003722HP:0003722Neck flexor weakness0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0003722HP:0003722Neck flexor weakness0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003722HP:0003722Neck flexor weakness0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0003722HP:0003722Neck flexor weakness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003722HP:0003722Neck flexor weakness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003722HP:0003722Neck flexor weakness0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0003722HP:0003722Neck flexor weakness0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0003722HP:0003722Neck flexor weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0003722HP:0003722Neck flexor weakness0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003722HP:0003722Neck flexor weakness0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0003722HP:0003722Neck flexor weakness0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0003722HP:0003722Neck flexor weakness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003722HP:0003722Neck flexor weakness0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0003722HP:0003722Neck flexor weakness0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0003722HP:0003722Neck flexor weakness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003722HP:0003722Neck flexor weakness0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0003722HP:0003722Neck flexor weakness0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040283 - Occasional83
HP:0003722HP:0003722Neck flexor weakness0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0003722HP:0003722Neck flexor weakness0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0003722HP:0003722Neck flexor weakness0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0003722HP:0003722Neck flexor weakness0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0003722HP:0003722Neck flexor weakness0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003722HP:0003722Neck flexor weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0003722HP:0003722Neck flexor weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128


Genes (40) :ACTA1 AGRN AK9 ALS2 CAV3 CFL2 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CNBP COL13A1 DES DOK7 DYSF FUS GYG1 KBTBD13 KLHL41 LAMA2 LMOD3 LRP4 MUSK MYH7 MYOT NEB POLG RAPSN RNASEH1 RRM2B SCN4A SELENON SGCG SIGMAR1 SPG11 SPTLC1 TPM2 TRIM32 TTN

Diseases (25) :OMIM:616852 OMIM:161800 ORPHA:171436 ORPHA:98913 ORPHA:300605 OMIM:614321 ORPHA:457050 OMIM:616209 OMIM:602668 ORPHA:98909 ORPHA:268 ORPHA:263297 OMIM:609273 OMIM:618138 OMIM:608358 OMIM:182920 ORPHA:399103 OMIM:256030 OMIM:157640 ORPHA:329336 OMIM:602771 ORPHA:353 OMIM:254110 ORPHA:178464 OMIM:603689
 

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