Rare diseases · Sign or symptom
Generalized hypotonia
Generalized decreased muscle tone
HP:0001290
What it means
Generalized muscular hypotonia (abnormally low muscle tone).
Rare diseases that can present with this148
Very common80–99%
23- Adenylosuccinate lyase deficiency
- Benign Samaritan congenital myopathy
- Brain dopamine-serotonin vesicular transport disease
- DDOST-CDG
- Giant axonal neuropathy
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Griscelli syndrome type 1
- Houge-Janssens syndrome type 1
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Inverted duplicated chromosome 15 syndrome
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Paternal uniparental disomy of chromosome 5 syndrome
- Pyruvate dehydrogenase E3 deficiency
- Rigid spine syndrome
- Severe X-linked mitochondrial encephalomyopathy
- Sialuria
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- X-linked myotubular myopathy-abnormal genitalia syndrome
- X-linked neurodegenerative syndrome, Bertini type
Common30–79%
54- 14q11.2microduplication syndrome
- 2p15p16.1microdeletion syndrome
- 7q11.23microduplication syndrome
- Acute inflammatory demyelinating polyradiculoneuropathy
- Acyl-CoA dehydrogenase 9 deficiency
- ALG13-CDG
- Ataxia-telangiectasia-like disorder
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal dominant centronuclear myopathy
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 43
- Autosomal recessive spastic paraplegia type 75
- Birk-Barel syndrome
- Cerebellar ataxia, Cayman type
- CK syndrome
- Classic multiminicore myopathy
- Combined oxidative phosphorylation defect type 13
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy without intellectual disability
- Congenital myasthenic syndrome with glycosylation defect
- DNA2-related mitochondrial DNA deletion syndrome
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Early-onset familial hypoaldosteronism
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Emanuel syndrome
- Ethylmalonic encephalopathy
- FKRP-related limb-girdle muscular dystrophy R9
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Hemiparkinsonism-hemiatrophy syndrome
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hypocalcemic vitamin D-dependent rickets
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- MEND syndrome
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- Microtriplication 11q24.1 syndrome
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Multiminicore myopathy
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Neutral lipid storage disease with myopathy
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Non-specific early-onset epileptic encephalopathy
- Ogden syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Generalised decreased muscle tone · Generalised hypotonia · Generalised muscular hypotonia · Generalized muscular hypotonia · Hypotonia, generalised · Hypotonia, generalized
Generalized hypotonia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.