Tunnused

Geeniga LRRC7 seotud tunnused

leucine rich repeat containing 7

Inimese fenotüübi ontoloogia seostab geeniga LRRC7 154 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

LRRC7

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Anxiety	Alati
Ataxia	Alati
Attention deficit	Alati
Autism spectrum disorder	Alati
Behavioral abnormality	Alati
Brief seizures with staring spells	Alati
Can't control feelings	Alati
Cerebellar vermis atrophy	Alati
Cerebral palsy	Alati
Chiari type I malformation	Alati
Clumsiness	Alati
Complex febrile seizure	Alati
Decreased reflex response	Alati
Delayed ability to sit	Alati
Delayed fine motor development	Alati
Delayed motor skills	Alati
Depression	Alati
Difficulty articulating speech	Alati
Difficulty falling asleep	Alati
Dysgraphia	Alati
Dystonia	Alati
EEG abnormality	Alati
Febrile seizure (within the age range of 3 months to 6 years)	Alati
Fluid-filled cyst in spinal cord	Alati
Frequent temper tantrums	Alati
Global developmental delay	Alati
Grammar-specific speech disorder	Alati
Hallucinations	Alati
Hallucinations of sound	Alati
Hand tremor	Alati
Headache	Alati
Impulsivity	Alati
Inability to coordinate movements when walking	Alati
Inability to speak	Alati
Inability to walk	Alati
Incoordination	Alati
Increased appetite	Alati
Intellectual disability	Alati
Intellectual disability, mild	Alati
Intellectual disability, severe	Alati
IQ between 34 and 49	Alati
Irritability	Alati
Low frustration tolerance	Alati
Migraine	Alati
Mild global developmental delay	Alati
Moderate global developmental delay	Alati
Moderate receptive language delay	Alati
Pain insensitivity	Alati
Pauses in breathing while sleeping	Alati
Psychosis	Alati
Reading disability	Alati
Reduced impulse control	Alati
Resting tremor	Alati
Restlessness	Alati
Selective mutism	Alati
Self-injurious behavior	Alati
Severe global developmental delay	Alati
Short attention span	Alati
Short corpus callosum	Alati
Slow movements	Alati
Thin corpus callosum	Alati
Typical absence seizure	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Unsteady walk	Alati
Visual hallucinations	Alati
Aggressive behavior	Väga sageli (80–99%)
Autism	Väga sageli (80–99%)
Delayed speech and language development	Väga sageli (80–99%)
Delayed ability to walk	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Difficulty sleeping	Mõnikord (5–29%)
Interictal epileptiform activity	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormal columella morphology	Alati
Big calvaria	Alati
Broad face	Alati
Broad opening between the eyelids	Alati
Epicanthus inversus	Alati
High palate	Alati
Pierre-Robin sequence	Alati
Prominent nasal bridge	Alati
Underdeveloped tissue around nostril	Alati
Wide nasal bridge	Alati
Wide nose	Alati
Abnormally large tongue	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Frontal bossing	Sageli (30–79%)
One sided cleft upper lip	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)
Deep philtrum	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Gap between teeth	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Appendicular hypotonia	Alati
Basal ganglia calcification	Alati
Cogwheel rigidity	Alati
Double-Jointed	Alati
Generalized decreased muscle tone	Alati
Kyphoscoliosis	Alati
Low muscle tone, in neonatal onset	Alati
Muscle weakness	Alati
Pigeon chest	Alati
Spastic diplegia	Alati
Low muscle tone in trunk	Sageli (30–79%)
Low muscle tone	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Drooping of both upper eyelids	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Hypometric saccades	Mõnikord (5–29%)
Inward turning cross eyed	Mõnikord (5–29%)
Outward facing eye ball	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Alati
Functional abnormality of the gastrointestinal tract	Alati
Jaundice	Alati
Feeding difficulties	Väga sageli (80–99%)
Pyloric stenosis	Sageli (30–79%)
Chronic constipation	Mõnikord (5–29%)
Stool holding	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Knee osteoarthritis	Alati
Short foot	Alati
Small hand	Alati
Dropped arches	Mõnikord (5–29%)
Pes valgus	Mõnikord (5–29%)
Tapered finger	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Alati
Obesity	Alati
Overweight	Alati
Proportionate short stature	Alati
Faltering weight	Sageli (30–79%)
Tall stature	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Acne	Alati
Asthma	Alati
Eczema	Alati
Food allergy	Alati
Recurrent infections	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Decreased ability to sweat	Alati
Multiple birthmarks	Alati
Patchy lightened skin	Alati
Skin tags	Alati
Spinal dimple	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Recurrent middle ear infection	Alati
Hearing impairment	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Enuresis	Alati
Hydronephrosis	Sageli (30–79%)
Urinary urgency	Sageli (30–79%)
Vesicoureteral reflux	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Aortic valve has two leaflets rather than three	Alati
Heart murmur	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Alati

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Pain	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga LRRC7 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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