Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the seventh cranial nerve (HP:0010827)help
Grandparent Node:
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Cranial nerve paralysis (HP:0006824)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Grandparent Node:
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Weakness of facial musculature (HP:0030319)help
Parent Node:
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Facial palsy (HP:0010628)help
..Starting node
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Facial diplegia (HP:0001349)help
Term ID: 1349
Name: Facial diplegia
Synonym: Bilateral facial weakness; Facial paresis, bilateral
Definition: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Comments:
Reference: HP:0001349
Genes and Diseases:
 
       Child Nodes:
........expandCongenital facial diplegia (HP:0007188) help

 Sister Nodes: 
..expandBilateral facial palsy (HP:0430025) help
..expandFrontalis muscle weakness (HP:0004661) help
..expandUnilateral facial palsy (HP:0012799) 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:0001349HP:0001349Facial diplegia0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0001349HP:0001349Facial diplegia0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0001349HP:0001349Facial diplegia0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0001349HP:0001349Facial diplegia0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0001349HP:0001349Facial diplegia0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0001349HP:0001349Facial diplegia0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0001349HP:0001349Facial diplegia0ADCY6 CL E G H112237OMIM:616287Lethal congenital contracture syndrome 8.2
HP:0001349HP:0001349Facial diplegia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0001349HP:0001349Facial diplegia0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001349HP:0001349Facial diplegia0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0001349HP:0001349Facial diplegia0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001349HP:0001349Facial diplegia0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001349HP:0001349Facial diplegia0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001349HP:0001349Facial diplegia0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0001349HP:0001349Facial diplegia0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0001349HP:0001349Facial diplegia0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0001349HP:0001349Facial diplegia0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0001349HP:0001349Facial diplegia0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0001349HP:0001349Facial diplegia0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001349HP:0001349Facial diplegia0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0001349HP:0001349Facial diplegia0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0001349HP:0001349Facial diplegia0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0001349HP:0001349Facial diplegia0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0001349HP:0001349Facial diplegia0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0001349HP:0001349Facial diplegia0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0001349HP:0001349Facial diplegia0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0001349HP:0001349Facial diplegia0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0001349HP:0001349Facial diplegia0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0001349HP:0001349Facial diplegia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0001349HP:0001349Facial diplegia0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0001349HP:0001349Facial diplegia0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0001349HP:0001349Facial diplegia0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0001349HP:0001349Facial diplegia0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0001349HP:0001349Facial diplegia0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0001349HP:0001349Facial diplegia0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0001349HP:0001349Facial diplegia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0001349HP:0001349Facial diplegia0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001349HP:0001349Facial diplegia0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001349HP:0001349Facial diplegia0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0001349HP:0001349Facial diplegia0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001349HP:0001349Facial diplegia0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001349HP:0001349Facial diplegia0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0001349HP:0001349Facial diplegia0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0001349HP:0001349Facial diplegia0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001349HP:0001349Facial diplegia0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0001349HP:0001349Facial diplegia0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001349HP:0001349Facial diplegia0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0001349HP:0001349Facial diplegia0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0001349HP:0001349Facial diplegia0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001349HP:0001349Facial diplegia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0001349HP:0001349Facial diplegia0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0001349HP:0001349Facial diplegia0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0001349HP:0001349Facial diplegia0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0001349HP:0001349Facial diplegia0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0001349HP:0001349Facial diplegia0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0001349HP:0001349Facial diplegia0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0001349HP:0001349Facial diplegia0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0001349HP:0001349Facial diplegia0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0001349HP:0001349Facial diplegia0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001349HP:0001349Facial diplegia0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001349HP:0001349Facial diplegia0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0001349HP:0001349Facial diplegia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0001349HP:0001349Facial diplegia0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0001349HP:0007188Congenital facial diplegia1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0001349HP:0007188Congenital facial diplegia1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (45) :ABCA1 ACTA1 ADCY6 ADGRG1 BIN1 CFL2 CNTNAP1 COL25A1 CRPPA CRYAB DMPK FKRP FKTN GLE1 KBTBD13 KLHL40 KLHL41 LMOD3 MPZ MTRFR MYPN NEB PI4KA POLG POLG2 POMT1 RRM2B RYR1 SCO2 SHMT2 SLC12A6 SLC25A4 SLC52A3 SOST SPEG SRPX2 SUCLA2 TK2 TPM2 TPM3 TTN TWNK VCP YME1L1 ZFHX4

Diseases (32) :ORPHA:31150 OMIM:205400 ORPHA:171439 ORPHA:171433 ORPHA:171430 ORPHA:171436 OMIM:616287 ORPHA:98889 ORPHA:169186 OMIM:616286 OMIM:618186 ORPHA:91411 ORPHA:370980 ORPHA:399058 OMIM:160900 OMIM:611890 OMIM:618184 ORPHA:254930 OMIM:613559 ORPHA:254892 ORPHA:98905 ORPHA:521411 OMIM:619121 OMIM:218000 OMIM:211500 OMIM:122860 OMIM:612073 OMIM:609560 OMIM:609285 OMIM:609284 ORPHA:329478 OMIM:617302
 

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