Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle tone (HP:0003808)help
Parent Node:
expand
Abnormality of facial musculature (HP:0000301)help
Parent Node:
expand
Hypotonia (HP:0001252)help
..Starting node
..expand
Facial hypotonia (HP:0000297)help
Term ID: 297
Name: Facial hypotonia
Synonym: Atony of facial musculature; Decreased facial muscle tone; Hypotonic facies; Low facial muscle tone; Reduced facial muscle tone
Definition: Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0000297
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandAxial hypotonia (HP:0008936) help
..expandFrog-leg posture (HP:0031139) help
..expandGeneralized hypotonia (HP:0001290) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) 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:0000297HP:0000297Facial hypotonia0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000297HP:0000297Facial hypotonia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0000297HP:0000297Facial hypotonia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0000297HP:0000297Facial hypotonia0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000297HP:0000297Facial hypotonia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0000297HP:0000297Facial hypotonia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0000297HP:0000297Facial hypotonia0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000297HP:0000297Facial hypotonia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000297HP:0000297Facial hypotonia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000297HP:0000297Facial hypotonia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000297HP:0000297Facial hypotonia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000297HP:0000297Facial hypotonia0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000297HP:0000297Facial hypotonia0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000297HP:0000297Facial hypotonia0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000297HP:0000297Facial hypotonia0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000297HP:0000297Facial hypotonia0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0000297HP:0000297Facial hypotonia0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0000297HP:0000297Facial hypotonia0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000297HP:0000297Facial hypotonia0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000297HP:0000297Facial hypotonia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000297HP:0000297Facial hypotonia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000297HP:0000297Facial hypotonia0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0000297HP:0000297Facial hypotonia0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000297HP:0000297Facial hypotonia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0000297HP:0000297Facial hypotonia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000297HP:0000297Facial hypotonia0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000297HP:0000297Facial hypotonia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000297HP:0000297Facial hypotonia0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0000297HP:0000297Facial hypotonia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0000297HP:0000297Facial hypotonia0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000297HP:0000297Facial hypotonia0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000297HP:0000297Facial hypotonia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000297HP:0000297Facial hypotonia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000297HP:0000297Facial hypotonia0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000297HP:0000297Facial hypotonia0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000297HP:0000297Facial hypotonia0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000297HP:0000297Facial hypotonia0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0000297HP:0000297Facial hypotonia0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000297HP:0000297Facial hypotonia0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000297HP:0000297Facial hypotonia0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000297HP:0000297Facial hypotonia0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000297HP:0000297Facial hypotonia0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000297HP:0000297Facial hypotonia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000297HP:0000297Facial hypotonia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000297HP:0000297Facial hypotonia0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0000297HP:0000297Facial hypotonia0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0000297HP:0000297Facial hypotonia0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000297HP:0000297Facial hypotonia0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000297HP:0000297Facial hypotonia0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000297HP:0000297Facial hypotonia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000297HP:0000297Facial hypotonia0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040282 - Frequent5
HP:0000297HP:0000297Facial hypotonia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000297HP:0000297Facial hypotonia0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000297HP:0000297Facial hypotonia0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69.
HP:0000297HP:0000297Facial hypotonia0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA


Genes (47) :AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 ASXL1 ATP1A2 ATP1A3 CACNA1A CAMK2G CHAMP1 DMPK DSE DYNC1H1 GAA GPC3 GPC4 GRIA3 HERC1 KCNK4 KDM4B KDM5C MAN2B1 MECP2 MYOT NGLY1 PAX7 PCGF2 POGZ POU3F3 PPP2R1A PPP2R5D PURA RAB11B SATB2 SET SLC1A3 SLC30A9 STAG2 STRADA TET3 UNC80 VPS13B XYLT2 YY1 ZBTB11 ZMIZ1

Diseases (48) :OMIM:615809 ORPHA:280763 OMIM:613744 OMIM:614067 ORPHA:97297 ORPHA:2131 OMIM:618522 OMIM:616579 ORPHA:589821 OMIM:615539 OMIM:614563 ORPHA:308552 OMIM:312870 ORPHA:364028 ORPHA:457359 OMIM:618381 OMIM:619320 OMIM:300534 ORPHA:309282 OMIM:300260 OMIM:300055 ORPHA:266 ORPHA:404454 OMIM:615273 OMIM:618578 OMIM:618371 OMIM:616364 ORPHA:468678 OMIM:618604 OMIM:616362 ORPHA:457284 OMIM:616355 ORPHA:438216 OMIM:617807 OMIM:612313 OMIM:618106 OMIM:617595 ORPHA:521258 OMIM:611087 ORPHA:500533 OMIM:618798 OMIM:616801 OMIM:216550 ORPHA:85194 ORPHA:506358 OMIM:617557 OMIM:618383 OMIM:618659
 

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