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Traits

Traits linked to SPG21

SPG21 abhydrolase domain containing, maspardin

The Human Phenotype Ontology links 34 traits to SPG21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitCât de frecvent apare
Abnormal gaitÎntotdeauna
Babinski signÎntotdeauna
Degeneration of cerebellumÎntotdeauna
Degeneration of cerebrumÎntotdeauna
DementiaÎntotdeauna
Difficulty articulating speechÎntotdeauna
Increased reflexesÎntotdeauna
Periventricular white matter hyperintensitiesÎntotdeauna
Thin corpus callosumÎntotdeauna
Abnormal pyramidal signFoarte des (80–99%)
Motor delayFoarte des (80–99%)
Abnormality of peripheral nerve conductionDes (30–79%)
ApraxiaDes (30–79%)
DysgraphiaDes (30–79%)
Frontotemporal cerebral atrophyDes (30–79%)
Global developmental delayDes (30–79%)
Jaw hyperreflexiaDes (30–79%)
Mental deteriorationDes (30–79%)
Personality disorderDes (30–79%)
Primitive reflexDes (30–79%)
Underdevelopment of part of brain called corpus callosumDes (30–79%)
Abnormality of extrapyramidal motor functionUneori (5–29%)
Abnormality of the cerebellumUneori (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feetUneori (5–29%)
Peripheral neuropathyUneori (5–29%)
Akinetic mutismNeînregistrat
Difficulty performing quick and alternating movementsNeînregistrat
IncoordinationNeînregistrat

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Spasticity and rigidity of musclesÎntotdeauna
Involuntary muscle stiffness, contraction, or spasmDes (30–79%)
Spastic paraparesisNeînregistrat
Spastic paraplegiaNeînregistrat

Abnormality of limbs

TraitCât de frecvent apare
Lower limb muscle weaknessDes (30–79%)

Abnormality of the digestive system

TraitCât de frecvent apare
Poor swallowingDes (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to SPG21 and how often each is seen. Find out more at hpo.jax.org.

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