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

Trait	Kui sageli seda täheldatakse
Abnormal gait	Alati
Babinski sign	Alati
Degeneration of cerebellum	Alati
Degeneration of cerebrum	Alati
Dementia	Alati
Difficulty articulating speech	Alati
Increased reflexes	Alati
Periventricular white matter hyperintensities	Alati
Thin corpus callosum	Alati
Abnormal pyramidal sign	Väga sageli (80–99%)
Motor delay	Väga sageli (80–99%)
Abnormality of peripheral nerve conduction	Sageli (30–79%)
Apraxia	Sageli (30–79%)
Dysgraphia	Sageli (30–79%)
Frontotemporal cerebral atrophy	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Jaw hyperreflexia	Sageli (30–79%)
Mental deterioration	Sageli (30–79%)
Personality disorder	Sageli (30–79%)
Primitive reflex	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Abnormality of extrapyramidal motor function	Mõnikord (5–29%)
Abnormality of the cerebellum	Mõnikord (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Mõnikord (5–29%)
Peripheral neuropathy	Mõnikord (5–29%)
Akinetic mutism	Pole registreeritud
Difficulty performing quick and alternating movements	Pole registreeritud
Incoordination	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Spasticity and rigidity of muscles	Alati
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Spastic paraparesis	Pole registreeritud
Spastic paraplegia	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Lower limb muscle weakness	Sageli (30–79%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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