Rare diseases · Sign or symptom
Hyporeflexia
Decreased reflex response
HP:0001265
What it means
Reduction of neurologic reflexes such as the knee-jerk reaction.
Rare diseases that can present with this118
Very common80–99%
18- Arachnoiditis
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive myogenic arthrogryposis multiplex congenita
- Benign Samaritan congenital myopathy
- Distal myotilinopathy
- Familial dysautonomia
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Kennedy disease
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Peripheral motor neuropathy-dysautonomia syndrome
- Polymicrogyria with optic nerve hypoplasia
- Pontocerebellar hypoplasia type 1
- Proximal 16p11.2 microduplication syndrome
- Smith-Magenis syndrome
- Spinocerebellar ataxia type 34
- Walker-Warburg syndrome
- Zellweger-like syndrome without peroxisomal anomalies
Common30–79%
53- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute inflammatory demyelinating polyradiculoneuropathy
- Alpha-B crystallin-related late-onset myopathy
- Atypical juvenile parkinsonism
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal recessive spastic paraplegia type 75
- Charcot-Marie-Tooth disease type 1A
- Childhood-onset nemaline myopathy
- COG7-CDG
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Dentatorubral pallidoluysian atrophy
- DOORS syndrome
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- Fragile X-associated tremor/ataxia syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Glycogen storage disease due to acid maltase deficiency
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Intermediate nemaline myopathy
- Isolated thyroid-stimulating hormone deficiency
- Lower motor neuron syndrome with late-adult onset
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Multiple congenital anomalies-hypotonia-seizures syndrome
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Neonatal Marfan syndrome
- Neuhauser-Eichner-Opitz syndrome
- Non-specific early-onset epileptic encephalopathy
- PMM2-CDG
- Prader-Willi syndrome
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Riboflavin transporter deficiency
- Rigid spine syndrome
- Schwartz-Jampel syndrome
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 31
- Spinocerebellar ataxia type 43
- Sudden infant death-dysgenesis of the testes syndrome
- Synaptic congenital myasthenic syndrome
- Thyrotoxic periodic paralysis
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- TRAPPC11-related limb-girdle muscular dystrophy R18
- Trichinellosis
- Typical nemaline myopathy
Sometimes5–29%
9- 3-hydroxy-3-methylglutaric aciduria
- Adult-onset nemaline myopathy
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Autoimmune hypoparathyroidism
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Beta-ketothiolase deficiency
and 1 more in this range
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: Decreased reflexes
Hyporeflexia
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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.