Mask-like facies

Symptom Information:

Symptom ID: HPO:0000298
Synonyms:
Amimia [HPO:0000298]
Expressionless face [HPO:0000298]
Masklike facies [HPO:0000298]
Expressionless face [Orphanet:3180]
Masklike facies (finding) [Orphanet:3180]
Expressionless face (finding) [Orphanet:3180]
Amimia [Orphanet:3180]
Mask-like facies [Orphanet:3180]
Expressionless face [OMIM:Expressionless face]
Mask-like facies [OMIM:Mask-like facies]
Masklike facies [OMIM:Masklike facies]
Expressionless face/amimia [Orphanet:3180]
Amimia [MedDRA:10053238]
Quality:
Cross references:
HPO:0008769 "Dull facial expression" [Orphanet:3180]
HPO:0000338 "Hypomimic face" [Orphanet:3180]
HPO:0004673 "Decreased facial expression" [Orphanet:3180]
Orphanet:3180 "Expressionless face/amimia" [Orphanet:3180]
OMIM: "Expressionless face" [OMIM:Expressionless face]
OMIM: "Mask-like facies" [OMIM:Mask-like facies]
OMIM: "Masklike facies" [OMIM:Masklike facies]
UMLS:C1095926 "Amimia" [Orphanet:3180]
UMLS:C0813217 "Expressionless face" [Orphanet:3180]
UMLS:C0424448 "Mask-like facies" [Orphanet:3180]
Is a (Direct Parents):
Orphanet Abnormal facial shape
HPO         Decreased facial expression
MedDRA Cortical dysfunction NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormal facial expression(HPO:0005346)
                   Decreased facial expression(HPO:0004673)
                      Mask-like facies(HPO:0000298)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders NEC(MedDRA:10029305)
       Cortical dysfunction NEC(MedDRA:10011168)
          Mask-like facies(HPO:0000298)
Database Frequency: 44 / 7739
Resource:

All diseases associated with this symptom:

15q11q13 microduplication syndrome (Orphanet:238446)
8q22.1 microdeletion syndrome (Orphanet:178303)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia (Orphanet:1321)
Centronuclear myopathy (Orphanet:595)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Facioscapulohumeral dystrophy (Orphanet:269)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Freeman-Sheldon syndrome (Orphanet:2053)
Gómez-López-Hernández syndrome (Orphanet:1532)
Infant botulism (Orphanet:178478)
Kabuki syndrome (Orphanet:2322)
Kufor-Rakeb syndrome (Orphanet:306674)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
MELAS (Orphanet:550)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marden-Walker syndrome (Orphanet:2461)
Melkersson-Rosenthal syndrome (Orphanet:2483)
Menkes disease (Orphanet:565)
Moebius syndrome (Orphanet:570)
Nemaline myopathy (Orphanet:607)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculopharyngeal muscular dystrophy (Orphanet:270)
PARALYSIS AGITANS, JUVENILE, OF HUNT (OMIM:168100)
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Parkinsonian-pyramidal syndrome (Orphanet:171695)
Parkinsonim due to ATP13A2 deficiency (Orphanet:314632)
Perry syndrome (Orphanet:178509)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
SCHIZOPHRENIA 10 (OMIM:605419)
Schwartz-Jampel syndrome (Orphanet:800)
Steinert myotonic dystrophy (Orphanet:273)
Wilson disease (Orphanet:905)
X-linked centronuclear myopathy (Orphanet:596)
X-linked creatine transporter deficiency (Orphanet:52503)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)