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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Curvature of little finger	Her zaman
Dropped arches	Her zaman
Hip dislocation	Her zaman
Increased muscle tone of arm or leg	Her zaman
Knee contracture	Her zaman
Knock knees	Her zaman
Partial hip dislocation	Her zaman
Decreased arm strength	Sık (%30–79)
Lower limb muscle weakness	Sık (%30–79)
Foot drop	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Acid reflux	Her zaman
Enlarged liver	Her zaman
Episodic vomiting	Her zaman
Feeding difficulties	Her zaman
Inguinal hernia	Her zaman
Intrahepatic inclusion bodies	Her zaman
Poor suck	Her zaman
Poor swallowing	Her zaman
Umbilical hernia	Her zaman

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Cerebral visual impairment	Her zaman
Cross-eyed	Her zaman
Deeply set eye	Her zaman
Involuntary, rapid, rhythmic eye movements	Her zaman
Inward turning cross eyed	Her zaman
Outward facing eye ball	Her zaman
Wide-set eyes	Her zaman
Drooping upper eyelid	Sık (%30–79)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Cough	Her zaman
Respiratory failure	Her zaman
Stiff lung or chest wall causing decreased lung volume	Her zaman
Ventilator dependence with inability to wean	Her zaman
Abnormality on pulmonary function testing	Sık (%30–79)
Breathing difficulty	Sık (%30–79)
Orthopnea	Bazen (%5–29)
Laryngospasm	Seyrek (%1–4)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Faltering weight	Her zaman
Tall stature	Her zaman
Truncal obesity	Her zaman
Short stature	Sık (%30–79)
Weight loss	Sık (%30–79)
Wasting syndrome	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Fetal distress	Her zaman
Less than 10 fetal movements in 12 hours	Her zaman
Premature rupture of membranes	Her zaman

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Aspiration pneumonia	Her zaman
Asthma	Her zaman
Recurrent respiratory infections	Her zaman

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Hearing abnormality	Her zaman
Sensorineural hearing impairment	Her zaman

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Fatigue	Sık (%30–79)
Pain	Sık (%30–79)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Patent foramen ovale	Her zaman

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Undescended testes	Her zaman

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Excessive hair growth	Her zaman

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Inability to produce voice sounds	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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