Kjennetegn

Kjennetegn knyttet til UNC13A

unc-13 homolog A

Human Phenotype Ontology knytter 180 kjennetegn til UNC13A, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

UNC13A

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
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	Svært ofte (80–99 %)
Ongoing loss of nerve cells	Svært ofte (80–99 %)
Absent reflexes	Ofte (30–79 %)
Babinski sign	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Can't control feelings	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Depression	Ofte (30–79 %)
Generalized-onset seizure	Ofte (30–79 %)
Hoffmann sign	Ofte (30–79 %)
Hypsarrhythmia	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Infantile spasms	Ofte (30–79 %)
IQ less than 20	Ofte (30–79 %)
Muscle twitch	Ofte (30–79 %)
Paralysis	Ofte (30–79 %)
Repeated seizures without recovery between them	Ofte (30–79 %)
Seizure affecting one half of brain	Ofte (30–79 %)
Tetraparesis	Ofte (30–79 %)
Thin corpus callosum	Ofte (30–79 %)
Degeneration of cerebrum	Noen ganger (5–29 %)
Delayed CNS myelination	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Epileptic encephalopathy	Noen ganger (5–29 %)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Noen ganger (5–29 %)
Frontotemporal dementia	Noen ganger (5–29 %)
High stepping	Noen ganger (5–29 %)
Jaw hyperreflexia	Noen ganger (5–29 %)
Language impairment	Noen ganger (5–29 %)
Periventricular leukomalacia	Noen ganger (5–29 %)
Reduced cerebral white matter volume	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
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 %)
Muscle degeneration	Ofte (30–79 %)
Muscle spasm	Ofte (30–79 %)
Progressive distal muscular atrophy	Ofte (30–79 %)
Spastic paraparesis	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
Development of small head that was not present at birth	Ofte (30–79 %)
Drooling	Ofte (30–79 %)
Wasting of the tongue	Ofte (30–79 %)
Tongue twitching	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Foot drop	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
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

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
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	Ofte (30–79 %)
Breathing difficulty	Ofte (30–79 %)
Orthopnea	Noen ganger (5–29 %)
Laryngospasm	Sjelden (1–4%)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Alltid
Tall stature	Alltid
Truncal obesity	Alltid
Short stature	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Wasting syndrome	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Fetal distress	Alltid
Less than 10 fetal movements in 12 hours	Alltid
Premature rupture of membranes	Alltid

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Aspiration pneumonia	Alltid
Asthma	Alltid
Recurrent respiratory infections	Alltid

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Hearing abnormality	Alltid
Sensorineural hearing impairment	Alltid

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Fatigue	Ofte (30–79 %)
Pain	Ofte (30–79 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Patent foramen ovale	Alltid

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Undescended testes	Alltid

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hair growth	Alltid

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Inability to produce voice sounds	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til UNC13A og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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