Traits

Traits linked to MAU2

MAU2 sister chromatid cohesion factor

The Human Phenotype Ontology links 187 traits to MAU2, by body system: features seen in people with one of the gene's rare conditions.

MAU2

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Trait	How often it is seen
Inability to straighten knee	Always
Webbed skin of 2nd-3rd toes	Always
Attachment of thumb close to wrist	Very often (80–99%)
Fused toes	Very often (80–99%)
Short foot	Very often (80–99%)
Shortened 1st long bone of hand	Very often (80–99%)
Small hand	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Bilateral single transverse palmar creases	Often (30–79%)
Curvature of little finger	Often (30–79%)
Elbow dislocation	Often (30–79%)
Fused forearm bones	Often (30–79%)
Abnormal morphology of ulna	Sometimes (5–29%)
Absent outermost little finger bone	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Oligodactyly	Sometimes (5–29%)
Prominent hinge joints	Sometimes (5–29%)
Short 5th finger	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Talipes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal saccadic eye movements	Always
Close sighted	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Phthisis bulbi	Often (30–79%)
Abnormally small eyeball on both sides	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Optic disc coloboma	Sometimes (5–29%)
Optic nerve aplasia	Sometimes (5–29%)
Retinal dysplasia	Sometimes (5–29%)
Septo-optic dysplasia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Always
Primary amenorrhea	Always
Undescended testes	Always
Vesicoureteral reflux	Always
Hypospadias	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Small labia majora	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Abnormality of the uterus	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Scoliosis	Always
Delayed bone maturation	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Joint stiffness	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Always
Absent ear canal	Very often (80–99%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Extra kidney	Always
Acid reflux	Very often (80–99%)
Feeding difficulties in infancy	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Volvulus	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)
Severe growth delay in children	Often (30–79%)
Small for gestational age	Often (30–79%)
Truncal obesity	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic regurgitation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Diabetes insipidus	Always
Reduced circulating growth hormone concentration	Often (30–79%)
Delayed puberty	Sometimes (5–29%)
Posterior pituitary agenesis	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Always
Excessive hairiness over body	Very often (80–99%)
Hairy elbow	Often (30–79%)
Excessive hair growth	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Always
Premature birth	Often (30–79%)
Prenatal movement abnormality	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Small nipples	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Repeated pneumothoraces	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAU2 and how often each is seen. Find out more at hpo.jax.org.

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