Trăsături

Trăsături asociate cu MAU2

MAU2 sister chromatid cohesion factor

Human Phenotype Ontology asociază 187 trăsături cu MAU2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MAU2

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased volume of lip	Întotdeauna
Delayed eruption of baby teeth	Întotdeauna
Delayed eruption of permanent teeth	Întotdeauna
Delayed loss of baby teeth	Întotdeauna
Hairy forehead	Întotdeauna
High palate	Întotdeauna
Little lower jaw	Întotdeauna
Low hairline at back of neck	Întotdeauna
Prominent nose	Întotdeauna
Recurrent sinus disease	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Curly eyelashes	Foarte des (80–99%)
Delayed eruption of teeth	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
Highly arched eyebrow	Foarte des (80–99%)
Long eyelashes	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Low frontal hairline	Foarte des (80–99%)
Monobrow	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Widely spaced teeth	Foarte des (80–99%)
Inflammation of eyelids	Des (30–79%)
Small head present at birth	Des (30–79%)
Smooth philtrum	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Triangular face	Des (30–79%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Both sided cleft lip	Uneori (5–29%)
Broad nasal tip	Uneori (5–29%)
Central cleft palate	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Empty sella turcica	Uneori (5–29%)
Flat face	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Full lower lip	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Macrodontia of permanent maxillary central incisor	Uneori (5–29%)
Oval face	Uneori (5–29%)
Right and left cleft palate	Uneori (5–29%)
Round face	Uneori (5–29%)
Small face	Uneori (5–29%)
Thick nasal alae	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormality of balance	Întotdeauna
Anxiety	Întotdeauna
Ataxia	Întotdeauna
Attention deficit	Întotdeauna
Communication delay	Întotdeauna
Depression	Întotdeauna
Difficulty articulating speech	Întotdeauna
Difficulty performing quick and alternating movements	Întotdeauna
Disorder of involuntary muscle movements	Întotdeauna
Frequent temper tantrums	Întotdeauna
Jerking	Întotdeauna
More active than typical	Întotdeauna
Motor delay	Întotdeauna
Tremor	Întotdeauna
Abnormally low-pitched voice	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Abnormal speech pattern	Des (30–79%)
Delayed ability to sit	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Specific learning disability	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Autism	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Fluid-filled cyst in spinal cord	Uneori (5–29%)
Intellectual disability, borderline	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Periventricular cysts	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Inability to straighten knee	Întotdeauna
Webbed skin of 2nd-3rd toes	Întotdeauna
Attachment of thumb close to wrist	Foarte des (80–99%)
Fused toes	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Shortened 1st long bone of hand	Foarte des (80–99%)
Small hand	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Bilateral single transverse palmar creases	Des (30–79%)
Curvature of little finger	Des (30–79%)
Elbow dislocation	Des (30–79%)
Fused forearm bones	Des (30–79%)
Abnormal morphology of ulna	Uneori (5–29%)
Absent outermost little finger bone	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Oligodactyly	Uneori (5–29%)
Prominent hinge joints	Uneori (5–29%)
Short 5th finger	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Talipes	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal saccadic eye movements	Întotdeauna
Close sighted	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Phthisis bulbi	Des (30–79%)
Abnormally small eyeball on both sides	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Optic disc coloboma	Uneori (5–29%)
Optic nerve aplasia	Uneori (5–29%)
Retinal dysplasia	Uneori (5–29%)
Septo-optic dysplasia	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hydronephrosis	Întotdeauna
Primary amenorrhea	Întotdeauna
Undescended testes	Întotdeauna
Vesicoureteral reflux	Întotdeauna
Hypospadias	Des (30–79%)
Multicystic kidney dysplasia	Des (30–79%)
Small labia majora	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Abnormality of the uterus	Uneori (5–29%)
Renal failure	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Funnel chest	Întotdeauna
Involuntary muscle stiffness, contraction, or spasm	Întotdeauna
Low muscle tone	Întotdeauna
Scoliosis	Întotdeauna
Delayed bone maturation	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
Joint stiffness	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Întotdeauna
Absent ear canal	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Large ears	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Extra kidney	Întotdeauna
Acid reflux	Foarte des (80–99%)
Feeding difficulties in infancy	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Volvulus	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Întotdeauna
Short stature	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Severe growth delay in children	Des (30–79%)
Small for gestational age	Des (30–79%)
Truncal obesity	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cutis marmorata	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic regurgitation	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Diabetes insipidus	Întotdeauna
Reduced circulating growth hormone concentration	Des (30–79%)
Delayed puberty	Uneori (5–29%)
Posterior pituitary agenesis	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Întotdeauna
Excessive hairiness over body	Foarte des (80–99%)
Hairy elbow	Des (30–79%)
Excessive hair growth	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Caesarean section	Întotdeauna
Premature birth	Des (30–79%)
Prenatal movement abnormality	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Small nipples	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Repeated pneumothoraces	Întotdeauna

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Întotdeauna

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 MAU2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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