Myopathic facies

Symptom Information:

Symptom ID: HPO:0002058
Synonyms:
Myopathic face [HPO:0002058]
Myopathic face [OMIM:Myopathic face]
Myopathic facies [OMIM:Myopathic facies]
Quality:
Cross references:
OMIM: "Myopathic face" [OMIM:Myopathic face]
OMIM: "Myopathic facies" [OMIM:Myopathic facies]
Is a (Direct Parents):
HPO         Decreased facial expression
HPO         Facial palsy
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Muscle weakness(HPO:0001324)
                Facial palsy(HPO:0010628)
                   Myopathic facies(HPO:0002058)
          Abnormality of facial musculature(HPO:0000301)
             Facial palsy(HPO:0010628)
                Myopathic facies(HPO:0002058)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of facial soft tissue(HPO:0011799)
                   Abnormality of facial musculature(HPO:0000301)
                      Facial palsy(HPO:0010628)
                         Myopathic facies(HPO:0002058)
                Abnormal facial expression(HPO:0005346)
                   Decreased facial expression(HPO:0004673)
                      Myopathic facies(HPO:0002058)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system morphology(HPO:0012639)
             Morphological abnormality of the central nervous system(HPO:0002011)
                Abnormality of the cranial nerves(HPO:0001291)
                   Cranial nerve paralysis(HPO:0006824)
                      Facial palsy(HPO:0010628)
                         Myopathic facies(HPO:0002058)
                   Abnormality of the seventh cranial nerve(HPO:0010827)
                      Facial palsy(HPO:0010628)
                         Myopathic facies(HPO:0002058)
MedDRA:
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Barth syndrome (Orphanet:111)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Hyaline body myopathy (Orphanet:53698)
MARFANOID HABITUS WITH SITUS INVERSUS (OMIM:609008)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 4 (OMIM:609285)
Native American myopathy (Orphanet:168572)
Nemaline myopathy (Orphanet:607)
Noonan syndrome (Orphanet:648)
Oculopharyngodistal myopathy (Orphanet:98897)
Riboflavin transporter deficiency (Orphanet:97229)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)