Trăsături

Trăsături asociate cu FKTN

fukutin

Human Phenotype Ontology asociază 166 trăsături cu FKTN, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FKTN

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal cerebral white matter morphology	Întotdeauna
Absent speech development	Întotdeauna
Agyria	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Motor delay	Întotdeauna
Small brainstem	Întotdeauna
Small cerebellum	Întotdeauna
Type II lissencephaly	Întotdeauna
Abnormal cerebellar vermis morphology	Foarte des (80–99%)
Abnormal cortical gyration	Foarte des (80–99%)
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Abnormality of neuronal migration	Foarte des (80–99%)
Absent reflexes	Foarte des (80–99%)
Cognitive impairment	Foarte des (80–99%)
Decreased reflex response	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Fewer and broader ridges in brain	Foarte des (80–99%)
Fewer or absent grooves in brain	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
More grooves in brain	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Abnormality of movement	Des (30–79%)
Absent septum pellucidum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Kinked brainstem	Des (30–79%)
Toe walking	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Cerebellar cyst	Uneori (5–29%)
Exaggerated startle response	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
Meningocele	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Gray matter heterotopia	Rar (1–4%)
Cerebellar dysplasia	Neînregistrat
Excessive daytime sleepiness	Neînregistrat
Hypoplasia of the pyramidal tract	Neînregistrat
IQ less than 20	Neînregistrat
Underdevelopment of part of brain called corpus callosum	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized muscle weakness	Întotdeauna
Hypoglycosylation of alpha-dystroglycan	Întotdeauna
Low muscle tone	Întotdeauna
Low muscle tone, in neonatal onset	Întotdeauna
Muscular dystrophy	Întotdeauna
Proximal neurogenic muscle weakness	Întotdeauna
Absent/small skeletal muscles	Foarte des (80–99%)
EMG abnormality	Foarte des (80–99%)
Flexed joint that cannot be straightened	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
EMG: myopathic abnormalities	Des (30–79%)
Fatty replacement of skeletal muscle	Des (30–79%)
Frequent falls	Des (30–79%)
Funnel chest	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Gowers sign	Des (30–79%)
Muscle spasm	Des (30–79%)
Progressive muscle weakness	Des (30–79%)
Reduced muscle fiber alpha dystroglycan	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Wasting of muscles near the body	Des (30–79%)
Kyphoscoliosis	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Congenital contracture	Neînregistrat
Increased skeletal muscle cells	Neînregistrat
Increased variability in muscle fiber diameter	Neînregistrat
Prominent swayback	Neînregistrat
Reduced spine movement	Neînregistrat
Scoliosis	Neînregistrat
Severely decreased muscle tone	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Corneal opacity	Întotdeauna
Retinal dysplasia	Întotdeauna
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Chorioretinal dysplasia	Foarte des (80–99%)
Close sighted	Foarte des (80–99%)
Cross-eyed	Foarte des (80–99%)
Glaucoma	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Optic nerve issue	Foarte des (80–99%)
Retinal detachment	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Absence of eyeballs	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cat eye	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Abnormality of eye movement	Neînregistrat
Blindness	Neînregistrat
Enlarged cornea	Neînregistrat
Enlarged eyeball	Neînregistrat
Farsightedness	Neînregistrat
Notched pupil	Neînregistrat
Optic nerve hypoplasia	Neînregistrat
Peters anomaly	Neînregistrat
Retinal atrophy	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Dandy-Walker malformation	Întotdeauna
Expressionless face	Întotdeauna
Meningoencephalocele	Întotdeauna
Asymmetry of the posterior head	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Big calvaria	Des (30–79%)
Broad head shape	Des (30–79%)
Facial diplegia	Des (30–79%)
Little lower jaw	Des (30–79%)
Sloping forehead	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Brain tissue sticks out through back of skull	Neînregistrat
Cleft upper lip	Neînregistrat
Encephalocele	Neînregistrat
Posterior fossa cyst	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased left ventricular end-diastolic volume	Întotdeauna
Reduced left ventricular ejection fraction	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Left ventricular systolic dysfunction	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Cardiac failure	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Myocardial fibrosis	Neînregistrat
Narrowing of pulmonic valve	Neînregistrat
Transposition of the great arteries	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Metatarsus valgus	Foarte des (80–99%)
Increased size of calf muscles	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Peroneal muscle weakness	Des (30–79%)
Scapular muscle atrophy	Des (30–79%)
Shortening of the achilles tendon	Des (30–79%)
Wasting of limb-girdle muscle	Des (30–79%)
Club feet	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Absent ear canal	Neînregistrat
Small ears	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Abnormal circulating aldolase concentration	Foarte des (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Foarte des (80–99%)
Abnormal levels of creatine kinase in blood	Foarte des (80–99%)
Fluid retention	Des (30–79%)
Mildly elevated creatine kinase	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Underdeveloped penis	Des (30–79%)
Renal dysplasia	Neînregistrat
Small male external genitalia	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Orthopnea	Des (30–79%)
Respiratory function loss	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Întotdeauna
Absent anus	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Des (30–79%)
Weak cry	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Muscle ache	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu FKTN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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