Traits

Traits linked to UBQLN2

ubiquilin 2

The Human Phenotype Ontology links 89 traits to UBQLN2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte det ses
Lou Gehrig's disease	Altid
Motor neuron atrophy	Meget ofte (80–99 %)
Ongoing loss of nerve cells	Meget ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Abnormal speech pattern	Ofte (30–79 %)
Anxiety	Ofte (30–79 %)
Arm dystonia	Ofte (30–79 %)
Babinski sign	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Brisk reflexes	Ofte (30–79 %)
Bulbar signs	Ofte (30–79 %)
Can't control feelings	Ofte (30–79 %)
CNS hypomyelination	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Delayed ability to walk	Ofte (30–79 %)
Depression	Ofte (30–79 %)
Difficulty articulating speech	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Hoffmann sign	Ofte (30–79 %)
Inability to walk	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Muscle twitch	Ofte (30–79 %)
Paralysis	Ofte (30–79 %)
Abnormality of the cerebellum	Nogle gange (5–29 %)
Ataxia	Nogle gange (5–29 %)
Axial dystonia	Nogle gange (5–29 %)
Chorea	Nogle gange (5–29 %)
Clonus	Nogle gange (5–29 %)
Difficulty sleeping	Nogle gange (5–29 %)
Frontotemporal dementia	Nogle gange (5–29 %)
Global developmental delay	Nogle gange (5–29 %)
Head titubation	Nogle gange (5–29 %)
High stepping	Nogle gange (5–29 %)
Jaw hyperreflexia	Nogle gange (5–29 %)
Language impairment	Nogle gange (5–29 %)
Loss of articulate speech	Nogle gange (5–29 %)
Oromandibular dystonia	Nogle gange (5–29 %)
Parkinsonism	Nogle gange (5–29 %)
Toe walking	Nogle gange (5–29 %)
Axonal loss	Ikke registreret
Gliosis	Ikke registreret
Involuntary writhing movements in fingers, hands, toes, and feet	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Distal muscle wasting	Meget ofte (80–99 %)
Generalized muscle weakness	Meget ofte (80–99 %)
Lower limb spasticity	Meget ofte (80–99 %)
Muscle degeneration	Meget ofte (80–99 %)
Muscle weakness	Meget ofte (80–99 %)
Uncontrollable movement in upper arms	Meget ofte (80–99 %)
Fatigable weakness of bulbar muscles	Ofte (30–79 %)
Fatigable weakness of respiratory muscles	Ofte (30–79 %)
Fatigable weakness of swallowing muscles	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Lower-limb joint contracture	Ofte (30–79 %)
Muscle fiber degeneration	Ofte (30–79 %)
Muscle spasm	Ofte (30–79 %)
Progressive distal muscular atrophy	Ofte (30–79 %)
Spastic diplegia	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Upper-limb joint contracture	Ofte (30–79 %)
Weakness of outermost muscles	Ofte (30–79 %)
Neck flexion weakness	Nogle gange (5–29 %)
Opisthotonus	Nogle gange (5–29 %)
Proximal neurogenic muscle weakness	Nogle gange (5–29 %)
Scoliosis	Nogle gange (5–29 %)
Spastic paraparesis	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Decreased salivary flow	Ofte (30–79 %)
Drooling	Ofte (30–79 %)
Wasting of the tongue	Ofte (30–79 %)
Abnormally small head	Nogle gange (5–29 %)
Retrocollis	Nogle gange (5–29 %)
Tongue twitching	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormality on pulmonary function testing	Ofte (30–79 %)
Breathing difficulty	Ofte (30–79 %)
Respiratory failure	Ofte (30–79 %)
Orthopnea	Nogle gange (5–29 %)
Laryngospasm	Sjældent (1–4%)

Abnormality of limbs

Trait	Hvor ofte det ses
Decreased arm strength	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Foot drop	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Poor swallowing	Ofte (30–79 %)
Gastrostomy tube feeding in infancy	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Supranuclear gaze palsy	Nogle gange (5–29 %)

Constitutional symptom

Trait	Hvor ofte det ses
Fatigue	Ofte (30–79 %)
Pain	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte det ses
Weight loss	Ofte (30–79 %)
Wasting syndrome	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Loss of bladder control	Nogle gange (5–29 %)

Abnormality of the voice

Trait	Hvor ofte det ses
Inability to produce voice sounds	Ofte (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 UBQLN2 and how often each is seen. Find out more at hpo.jax.org.

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