Muscular hypotonia of the trunk

Symptom Information:

Symptom ID: HPO:0008936
Synonyms:
Axial hypotonia [HPO:0008936]
Truncal hypotonia [HPO:0008936]
Axial hypotonia [OMIM:Axial hypotonia]
Truncal hypotonia [OMIM:Truncal hypotonia]
Axial hypotonia (1 patient) [OMIM:Axial hypotonia (1 patient)]
Axial hypotonia (rare) [OMIM:Axial hypotonia (rare)]
Hypotonia, truncal [OMIM:Hypotonia, truncal]
Quality:
Cross references:
OMIM: "Axial hypotonia" [OMIM:Axial hypotonia]
OMIM: "Truncal hypotonia" [OMIM:Truncal hypotonia]
OMIM: "Axial hypotonia (1 patient)" [OMIM:Axial hypotonia (1 patient)]
OMIM: "Axial hypotonia (rare)" [OMIM:Axial hypotonia (rare)]
OMIM: "Hypotonia, truncal" [OMIM:Hypotonia, truncal]
Is a (Direct Parents):
HPO         Muscular hypotonia
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Abnormal muscle tone(HPO:0003808)
                Muscular hypotonia(HPO:0001252)
                   Muscular hypotonia of the trunk(HPO:0008936)
MedDRA:
Database Frequency: 77 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ASPARAGINE SYNTHETASE (OMIM:108370)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Adenylosuccinate lyase deficiency (Orphanet:46)
Amish lethal microcephaly (Orphanet:99742)
Aromatic L-amino acid decarboxylase deficiency (Orphanet:35708)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
COG4-CDG (Orphanet:263501)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (Orphanet:300570)
D-glyceric aciduria (Orphanet:941)
DEND syndrome (Orphanet:79134)
Dehydratase deficiency (Orphanet:1578)
Dihydropteridine reductase deficiency (Orphanet:226)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
Early infantile epileptic encephalopathy (Orphanet:1934)
Familial dyskinesia and facial myokymia (Orphanet:324588)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet:363412)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
Infantile dystonia-parkinsonism (Orphanet:238455)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
MEGDEL syndrome (Orphanet:352328)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Malignant migrating partial seizures of infancy (Orphanet:293181)
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus (Orphanet:83473)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Monosomy 13q14 (Orphanet:1587)
Mulibrey nanism (Orphanet:2576)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Propionic acidemia (Orphanet:35)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Thiamine-responsive encephalopathy (Orphanet:199348)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
X-linked intellectual deficit, Najm type (Orphanet:163937)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)