Traits

Traits linked to VPS13D

vacuolar protein sorting 13 homolog D

The Human Phenotype Ontology links 42 traits to VPS13D, 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 lower motor neuron morphology	Väga sageli (80–99%)
Abnormal pyramidal sign	Väga sageli (80–99%)
Ataxia	Väga sageli (80–99%)
Inability to coordinate movements when walking	Väga sageli (80–99%)
Instability or lack of coordination of central trunk muscles	Väga sageli (80–99%)
Limb ataxia	Väga sageli (80–99%)
Progressive cerebellar ataxia	Väga sageli (80–99%)
Somatic sensory dysfunction	Väga sageli (80–99%)
Upper motor neuron dysfunction	Väga sageli (80–99%)
Degeneration of cerebellum	Sageli (30–79%)
Difficulty articulating speech	Sageli (30–79%)
Impaired proprioception	Sageli (30–79%)
Jerking	Sageli (30–79%)
Muscle twitch	Sageli (30–79%)
Nerve damage causing decreased feeling and movement	Sageli (30–79%)
Reading disability	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Epilepsy	Mõnikord (5–29%)
Impaired executive functioning	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Abnormal cerebral white matter morphology	Harva (1–4%)
Babinski sign	Pole registreeritud
Dystonia	Pole registreeritud
Increased reflexes	Pole registreeritud
Peripheral axonal neuropathy	Pole registreeritud
Tremor	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Abnormal visual fixation	Väga sageli (80–99%)
Abnormal saccadic eye movements	Sageli (30–79%)
Abnormality of eye movement	Sageli (30–79%)
Hypermetric saccades	Sageli (30–79%)
Gaze-evoked nystagmus	Mõnikord (5–29%)
Macrosaccadic oscillations	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Distal muscle wasting	Pole registreeritud
Frequent falls	Pole registreeritud
Low muscle tone in trunk	Pole registreeritud
Weakness of outermost muscles	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Wry neck	Mõnikord (5–29%)
Abnormally small head	Harva (1–4%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
High-arched foot	Sageli (30–79%)
Lower limb muscle weakness	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 VPS13D and how often each is seen. Find out more at hpo.jax.org.

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