Trăsături

Trăsături asociate cu RAI1

retinoic acid induced 1

Human Phenotype Ontology asociază 197 trăsături cu RAI1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RAI1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Mild global developmental delay	Întotdeauna
Abnormal speech pattern	Foarte des (80–99%)
Anxiety	Foarte des (80–99%)
Attention deficit	Foarte des (80–99%)
Autism	Foarte des (80–99%)
Communication delay	Foarte des (80–99%)
Decreased reflex response	Foarte des (80–99%)
Delayed ability to walk	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Difficulty finding words	Foarte des (80–99%)
Difficulty sleeping	Foarte des (80–99%)
Echoing another person's speech	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Pauses in breathing while sleeping	Foarte des (80–99%)
Repetitive movements	Foarte des (80–99%)
Self-injurious behavior	Foarte des (80–99%)
Self-mutilation	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Abnormal temper tantrums	Des (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Brain imaging abnormality	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
Cognitive impairment	Des (30–79%)
Decreased sensation in extremities	Des (30–79%)
EEG abnormality	Des (30–79%)
Head-banging	Des (30–79%)
Hyperacusis	Des (30–79%)
Impaired pain sensation	Des (30–79%)
Impulsivity	Des (30–79%)
More active than typical	Des (30–79%)
Motor delay	Des (30–79%)
Onychotillomania	Des (30–79%)
Pain insensitivity	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Polyembolokoilamania	Des (30–79%)
Poor fine motor coordination	Des (30–79%)
Short REM sleep	Des (30–79%)
Sleep-wake cycle disturbance	Des (30–79%)
Speech apraxia	Des (30–79%)
Toe walking	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Damage to nerves that sense feeling	Uneori (5–29%)
Decreased nerve conduction velocity	Uneori (5–29%)
Decreased number of peripheral myelinated nerve fibers	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Fluid-filled cyst in spinal cord	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
Absent reflexes	Neînregistrat
Delayed myelination	Neînregistrat
Language impairment	Neînregistrat
Morphological central nervous system abnormality	Neînregistrat
Poor eye contact	Neînregistrat
Receptive language delay	Neînregistrat
Self hugging	Neînregistrat
Sleep-wake inversion	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Midface retrusion	Întotdeauna
Square face	Întotdeauna
Abnormal dentition	Foarte des (80–99%)
Abnormal facial shape	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Delayed eruption of baby teeth	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Large face	Foarte des (80–99%)
Monobrow	Foarte des (80–99%)
Taurodontia	Foarte des (80–99%)
Tented mouth	Foarte des (80–99%)
Upward slanting of the opening between the eyelids	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Big lower jaw	Des (30–79%)
Broad face	Des (30–79%)
Coarse facial features	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Drooping upper lip	Des (30–79%)
Little lower jaw	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Open mouth	Des (30–79%)
Prominent forehead	Des (30–79%)
Recurrent colds	Des (30–79%)
Short nose	Des (30–79%)
Short philtrum	Des (30–79%)
Triangular face	Des (30–79%)
Velopharyngeal incompetence	Des (30–79%)
Abnormality of dental shape	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Open bite	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Wide nose	Uneori (5–29%)
Bad bite	Neînregistrat
Dental crowding	Neînregistrat
High palate	Neînregistrat
Prominent nasal tip	Neînregistrat
Triangular head shape	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Foarte des (80–99%)
Abnormal feet structure	Des (30–79%)
Broad palm	Des (30–79%)
Curvature of little finger	Des (30–79%)
Decreased/absent ankle reflexes	Des (30–79%)
Dropped arches	Des (30–79%)
Foot drop	Des (30–79%)
Fused toes	Des (30–79%)
Short middle bone of the little finger	Des (30–79%)
Short palm	Des (30–79%)
Abnormality of the forearm	Uneori (5–29%)
Club feet	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Webbed 2nd and 3rd toes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormality of the heart	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)
Double outlet right ventricle	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Overriding aorta	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Persistent left superior vena cava	Uneori (5–29%)
Abnormality of the cardiovascular system	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Întotdeauna
Deeply set eye	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Close sighted	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Severe farsightedness	Des (30–79%)
Wide-set eyes	Des (30–79%)
Iris nodule	Uneori (5–29%)
Retinal detachment	Uneori (5–29%)
Farsightedness	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Recurrent middle ear infection	Foarte des (80–99%)
Abnormality of the outer ear	Des (30–79%)
Chronic infections of the middle ear	Des (30–79%)
Conductive deafness	Des (30–79%)
Hearing impairment	Des (30–79%)
Middle ear malformation	Des (30–79%)
Abnormally shaped ears	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Decreased muscle tone in infant	Foarte des (80–99%)
Distal muscle wasting	Des (30–79%)
Double-Jointed	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Weakness of outermost muscles	Des (30–79%)
Joint stiffness	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Truncal obesity	Întotdeauna
Faltering weight	Foarte des (80–99%)
Obesity	Foarte des (80–99%)
Faltering weight in infancy	Des (30–79%)
Increased body weight	Des (30–79%)
Short stature	Des (30–79%)
Small for gestational age	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormally shaped kidney	Des (30–79%)
Abnormal localisation of kidneys	Uneori (5–29%)
Abnormality of the genitourinary system	Uneori (5–29%)
Abnormality of the ureter	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Urinary tract abnormalities	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Chronic constipation	Des (30–79%)
Constipation	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal pineal melatonin secretion	Foarte des (80–99%)
Abnormality of the thyroid gland	Des (30–79%)
Delayed puberty	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal tracheobronchial morphology	Foarte des (80–99%)
Abnormality of the pharynx	Foarte des (80–99%)
Abnormality of the larynx	Des (30–79%)
Spontaneous collapsed lung	Des (30–79%)
Vocal cord polyp	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated serum cholesterol	Des (30–79%)
Increased plasma triglycerides	Des (30–79%)
Decreased circulating cholesterol level	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome segregation	Foarte des (80–99%)
Decreased circulating IgA concentration	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of the immune system	Des (30–79%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Foarte des (80–99%)

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 RAI1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu