Egenskaper

Egenskaper kopplade till MAU2

MAU2 sister chromatid cohesion factor

Human Phenotype Ontology kopplar 187 egenskaper till MAU2, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

MAU2

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Inability to straighten knee	Alltid
Webbed skin of 2nd-3rd toes	Alltid
Attachment of thumb close to wrist	Mycket ofta (80–99 %)
Fused toes	Mycket ofta (80–99 %)
Short foot	Mycket ofta (80–99 %)
Shortened 1st long bone of hand	Mycket ofta (80–99 %)
Small hand	Mycket ofta (80–99 %)
Smaller or shorter than typical limbs	Mycket ofta (80–99 %)
Bilateral single transverse palmar creases	Ofta (30–79 %)
Curvature of little finger	Ofta (30–79 %)
Elbow dislocation	Ofta (30–79 %)
Fused forearm bones	Ofta (30–79 %)
Abnormal morphology of ulna	Ibland (5–29 %)
Absent outermost little finger bone	Ibland (5–29 %)
Hip dislocation	Ibland (5–29 %)
Oligodactyly	Ibland (5–29 %)
Prominent hinge joints	Ibland (5–29 %)
Short 5th finger	Ibland (5–29 %)
Short fingers or toes	Ibland (5–29 %)
Talipes	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Abnormal saccadic eye movements	Alltid
Close sighted	Ofta (30–79 %)
Cornea of eye less than 10mm in diameter	Ofta (30–79 %)
Drooping upper eyelid	Ofta (30–79 %)
Inward turning cross eyed	Ofta (30–79 %)
Phthisis bulbi	Ofta (30–79 %)
Abnormally small eyeball on both sides	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Farsightedness	Ibland (5–29 %)
Glaucoma	Ibland (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)
Oculomotor apraxia	Ibland (5–29 %)
Optic disc coloboma	Ibland (5–29 %)
Optic nerve aplasia	Ibland (5–29 %)
Retinal dysplasia	Ibland (5–29 %)
Septo-optic dysplasia	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Hydronephrosis	Alltid
Primary amenorrhea	Alltid
Undescended testes	Alltid
Vesicoureteral reflux	Alltid
Hypospadias	Ofta (30–79 %)
Multicystic kidney dysplasia	Ofta (30–79 %)
Small labia majora	Ofta (30–79 %)
Underdeveloped penis	Ofta (30–79 %)
Abnormality of the uterus	Ibland (5–29 %)
Renal failure	Ibland (5–29 %)

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Funnel chest	Alltid
Involuntary muscle stiffness, contraction, or spasm	Alltid
Low muscle tone	Alltid
Scoliosis	Alltid
Delayed bone maturation	Mycket ofta (80–99 %)
Spasticity and rigidity of muscles	Mycket ofta (80–99 %)
Joint stiffness	Ofta (30–79 %)
Abnormal formation of the hip	Ibland (5–29 %)
Congenital diaphragmatic hernia	Ibland (5–29 %)
Double-Jointed	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Dizziness	Alltid
Absent ear canal	Mycket ofta (80–99 %)
Conductive deafness	Ofta (30–79 %)
Ears rotated toward back of head	Ofta (30–79 %)
Sensorineural hearing impairment	Ofta (30–79 %)
Hearing impairment	Ibland (5–29 %)
Large ears	Ibland (5–29 %)
Low-set ears	Ibland (5–29 %)
Prominent ear	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Extra kidney	Alltid
Acid reflux	Mycket ofta (80–99 %)
Feeding difficulties in infancy	Ofta (30–79 %)
Feeding difficulties	Ibland (5–29 %)
Intestinal malrotation	Ibland (5–29 %)
Pyloric stenosis	Ibland (5–29 %)
Volvulus	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Prenatal growth deficiency	Alltid
Short stature	Mycket ofta (80–99 %)
Faltering weight	Ofta (30–79 %)
Severe growth delay in children	Ofta (30–79 %)
Small for gestational age	Ofta (30–79 %)
Truncal obesity	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Cutis marmorata	Ofta (30–79 %)
Abnormal cardiovascular system morphology	Ibland (5–29 %)
An opening in the wall separating the top two chambers of the heart	Ibland (5–29 %)
Aortic regurgitation	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Diabetes insipidus	Alltid
Reduced circulating growth hormone concentration	Ofta (30–79 %)
Delayed puberty	Ibland (5–29 %)
Posterior pituitary agenesis	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Excessive hairiness	Alltid
Excessive hairiness over body	Mycket ofta (80–99 %)
Hairy elbow	Ofta (30–79 %)
Excessive hair growth	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Caesarean section	Alltid
Premature birth	Ofta (30–79 %)
Prenatal movement abnormality	Ibland (5–29 %)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Small nipples	Ofta (30–79 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Repeated pneumothoraces	Alltid

Constitutional symptom

Egenskap	Hur ofta den förekommer
Fatigue	Alltid

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till MAU2 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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