Muscular hypotonia of the trunk
Symptom Information:
Symptom ID: | HPO:0008936 | |||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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: |
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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) |