Traits

Traits linked to UNC13A

unc-13 homolog A

The Human Phenotype Ontology links 180 traits to UNC13A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hur ofta den förekommer
Abnormal gait	Alltid
Absent speech development	Alltid
Action tremor	Alltid
Aggressive behavior	Alltid
Anxiety	Alltid
Ataxia	Alltid
Autism	Alltid
Autism spectrum disorder	Alltid
Axonal spheroids	Alltid
Bilateral tonic-clonic seizure with focal onset	Alltid
Bilateral tonic-clonic seizure with generalized onset	Alltid
Decreased compound muscle action potential amplitude	Alltid
Decreased reflex response	Alltid
Degeneration of the spinal cord	Alltid
Delayed ability to walk	Alltid
Delayed speech and language development	Alltid
Difficulty articulating speech	Alltid
Disorder of involuntary muscle movements	Alltid
EEG with burst suppression	Alltid
EEG with central sharp waves	Alltid
Epilepsy	Alltid
Febrile seizure (within the age range of 3 months to 6 years)	Alltid
Focal impaired awareness seizure	Alltid
Gliosis	Alltid
Grand mal seizures	Alltid
Inability to coordinate movements when walking	Alltid
Inability to walk by childhood/adolescence	Alltid
Inappropriate laughter	Alltid
Instability or lack of coordination of central trunk muscles	Alltid
Intellectual disability	Alltid
Intellectual disability, mild	Alltid
Intellectual disability, severe	Alltid
Intention tremor	Alltid
IQ between 34 and 49	Alltid
Irritability	Alltid
Limb tremor	Alltid
Lou Gehrig's disease	Alltid
More active than typical	Alltid
Motor delay	Alltid
Multifocal epileptiform discharges	Alltid
Multifocal seizures	Alltid
Pain insensitivity	Alltid
Poor eye contact	Alltid
Psychosis	Alltid
Simple febrile seizure	Alltid
Speech apraxia	Alltid
Tonic seizure	Alltid
Tremor	Alltid
Weakness of one side of body	Alltid
Motor neuron atrophy	Mycket ofta (80–99 %)
Ongoing loss of nerve cells	Mycket ofta (80–99 %)
Absent reflexes	Ofta (30–79 %)
Babinski sign	Ofta (30–79 %)
Behavioral abnormality	Ofta (30–79 %)
Can't control feelings	Ofta (30–79 %)
Cognitive impairment	Ofta (30–79 %)
Depression	Ofta (30–79 %)
Generalized-onset seizure	Ofta (30–79 %)
Hoffmann sign	Ofta (30–79 %)
Hypsarrhythmia	Ofta (30–79 %)
Increased reflexes	Ofta (30–79 %)
Infantile spasms	Ofta (30–79 %)
IQ less than 20	Ofta (30–79 %)
Muscle twitch	Ofta (30–79 %)
Paralysis	Ofta (30–79 %)
Repeated seizures without recovery between them	Ofta (30–79 %)
Seizure affecting one half of brain	Ofta (30–79 %)
Tetraparesis	Ofta (30–79 %)
Thin corpus callosum	Ofta (30–79 %)
Degeneration of cerebrum	Ibland (5–29 %)
Delayed CNS myelination	Ibland (5–29 %)
Difficulty sleeping	Ibland (5–29 %)
Epileptic encephalopathy	Ibland (5–29 %)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Ibland (5–29 %)
Frontotemporal dementia	Ibland (5–29 %)
High stepping	Ibland (5–29 %)
Jaw hyperreflexia	Ibland (5–29 %)
Language impairment	Ibland (5–29 %)
Periventricular leukomalacia	Ibland (5–29 %)
Reduced cerebral white matter volume	Ibland (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hur ofta den förekommer
Congenital diaphragmatic hernia	Alltid
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Alltid
EMG: myopathic abnormalities	Alltid
Excessive inward curvature of lower spine	Alltid
Generalized muscle weakness	Alltid
Generalized osteoporosis	Alltid
Kyphoscoliosis	Alltid
Low muscle tone	Alltid
Osteopenia	Alltid
Osteoporosis	Alltid
Scoliosis	Alltid
Spastic diplegia	Alltid
Spastic hemiparesis	Alltid
Thoracolumbar scoliosis	Alltid
Type 1 muscle fiber predominance	Alltid
Type 2 muscle fiber atrophy	Alltid
Distal muscle wasting	Ofta (30–79 %)
Fatigable weakness of bulbar muscles	Ofta (30–79 %)
Fatigable weakness of respiratory muscles	Ofta (30–79 %)
Fatigable weakness of swallowing muscles	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Muscle degeneration	Ofta (30–79 %)
Muscle spasm	Ofta (30–79 %)
Progressive distal muscular atrophy	Ofta (30–79 %)
Spastic paraparesis	Ibland (5–29 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)

Abnormality of head or neck

Trait	Hur ofta den förekommer
Broad forehead	Alltid
Broad philtrum	Alltid
Decreased size of nasal tip	Alltid
Depressed nasal bridge	Alltid
Drooping lower lip	Alltid
High forehead	Alltid
High palate	Alltid
Narrow forehead	Alltid
Nasal tip, upturned	Alltid
Short opening between the eyelids	Alltid
Smooth philtrum	Alltid
Submucous cleft palate	Alltid
Underdeveloped tissue around nostril	Alltid
Wide nasal bridge	Alltid
Decreased salivary flow	Ofta (30–79 %)
Development of small head that was not present at birth	Ofta (30–79 %)
Drooling	Ofta (30–79 %)
Wasting of the tongue	Ofta (30–79 %)
Tongue twitching	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Curvature of little finger	Alltid
Dropped arches	Alltid
Hip dislocation	Alltid
Increased muscle tone of arm or leg	Alltid
Knee contracture	Alltid
Knock knees	Alltid
Partial hip dislocation	Alltid
Decreased arm strength	Ofta (30–79 %)
Lower limb muscle weakness	Ofta (30–79 %)
Foot drop	Ibland (5–29 %)

Abnormality of the digestive system

Trait	Hur ofta den förekommer
Acid reflux	Alltid
Enlarged liver	Alltid
Episodic vomiting	Alltid
Feeding difficulties	Alltid
Inguinal hernia	Alltid
Intrahepatic inclusion bodies	Alltid
Poor suck	Alltid
Poor swallowing	Alltid
Umbilical hernia	Alltid

Abnormality of the eye

Trait	Hur ofta den förekommer
Cerebral visual impairment	Alltid
Cross-eyed	Alltid
Deeply set eye	Alltid
Involuntary, rapid, rhythmic eye movements	Alltid
Inward turning cross eyed	Alltid
Outward facing eye ball	Alltid
Wide-set eyes	Alltid
Drooping upper eyelid	Ofta (30–79 %)

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Cough	Alltid
Respiratory failure	Alltid
Stiff lung or chest wall causing decreased lung volume	Alltid
Ventilator dependence with inability to wean	Alltid
Abnormality on pulmonary function testing	Ofta (30–79 %)
Breathing difficulty	Ofta (30–79 %)
Orthopnea	Ibland (5–29 %)
Laryngospasm	Sällan (1–4%)

Growth abnormality

Trait	Hur ofta den förekommer
Faltering weight	Alltid
Tall stature	Alltid
Truncal obesity	Alltid
Short stature	Ofta (30–79 %)
Weight loss	Ofta (30–79 %)
Wasting syndrome	Ibland (5–29 %)

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
Fetal distress	Alltid
Less than 10 fetal movements in 12 hours	Alltid
Premature rupture of membranes	Alltid

Abnormality of the immune system

Trait	Hur ofta den förekommer
Aspiration pneumonia	Alltid
Asthma	Alltid
Recurrent respiratory infections	Alltid

Abnormality of the ear

Trait	Hur ofta den förekommer
Hearing abnormality	Alltid
Sensorineural hearing impairment	Alltid

Constitutional symptom

Trait	Hur ofta den förekommer
Fatigue	Ofta (30–79 %)
Pain	Ofta (30–79 %)

Abnormality of the cardiovascular system

Trait	Hur ofta den förekommer
Patent foramen ovale	Alltid

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Undescended testes	Alltid

Abnormality of the integument

Trait	Hur ofta den förekommer
Excessive hair growth	Alltid

Abnormality of the voice

Trait	Hur ofta den förekommer
Inability to produce voice sounds	Ofta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

The Human Phenotype Ontology, release 2026-09-01: the traits linked to UNC13A and how often each is seen. Find out more at hpo.jax.org.

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