Rare diseases · Sign or symptom
Lower limb hypertonia
HP:0006895
Rare diseases that can present with this17
Very common80–99%
2Common30–79%
7- Autosomal dominant spastic paraplegia type 9A
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Autosomal recessive spastic paraplegia type 35
- Bohring-Opitz syndrome
- Early-onset cerebellar ataxia with retained tendon reflexes
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- Spastic paraplegia type 7
Sometimes5–29%
7- Combined oxidative phosphorylation defect type 13
- Isolated succinate-CoQ reductase deficiency
- Leukocyte adhesion deficiency type II
- Methylcobalamin deficiency type cblE
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Pontocerebellar hypoplasia type 2
- Say-Barber-Miller 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
Lower limb hypertonia
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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.