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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

TraitHvor ofte det ses
Abnormal gaitAltid
Babinski signAltid
Degeneration of cerebellumAltid
Degeneration of cerebrumAltid
DementiaAltid
Difficulty articulating speechAltid
Increased reflexesAltid
Periventricular white matter hyperintensitiesAltid
Thin corpus callosumAltid
Abnormal pyramidal signMeget ofte (80–99 %)
Motor delayMeget ofte (80–99 %)
Abnormality of peripheral nerve conductionOfte (30–79 %)
ApraxiaOfte (30–79 %)
DysgraphiaOfte (30–79 %)
Frontotemporal cerebral atrophyOfte (30–79 %)
Global developmental delayOfte (30–79 %)
Jaw hyperreflexiaOfte (30–79 %)
Mental deteriorationOfte (30–79 %)
Personality disorderOfte (30–79 %)
Primitive reflexOfte (30–79 %)
Underdevelopment of part of brain called corpus callosumOfte (30–79 %)
Abnormality of extrapyramidal motor functionNogle gange (5–29 %)
Abnormality of the cerebellumNogle gange (5–29 %)
Involuntary writhing movements in fingers, hands, toes, and feetNogle gange (5–29 %)
Peripheral neuropathyNogle gange (5–29 %)
Akinetic mutismIkke registreret
Difficulty performing quick and alternating movementsIkke registreret
IncoordinationIkke registreret

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Spasticity and rigidity of musclesAltid
Involuntary muscle stiffness, contraction, or spasmOfte (30–79 %)
Spastic paraparesisIkke registreret
Spastic paraplegiaIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Lower limb muscle weaknessOfte (30–79 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Poor swallowingOfte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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