Traits

Traits linked to NIPBL

NIPBL cohesin loading factor

The Human Phenotype Ontology links 165 traits to NIPBL, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Thick eyebrow	Always
Abnormally small head	Very often (80–99%)
Boxer's nasal deformity	Very often (80–99%)
Broad head shape	Very often (80–99%)
Broad nasal tip	Very often (80–99%)
Curly eyelashes	Very often (80–99%)
Decreased volume of lip	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%)
High palate	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long eyelashes	Very often (80–99%)
Long philtrum	Very often (80–99%)
Low frontal hairline	Very often (80–99%)
Low hairline at back of neck	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%)
Thin red part of the upper lip	Very often (80–99%)
Widely spaced teeth	Very often (80–99%)
Inflammation of eyelids	Often (30–79%)
Narrowing of the tear duct	Often (30–79%)
Smooth philtrum	Often (30–79%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Cleft upper lip	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short foot	Always
Attachment of thumb close to wrist	Very often (80–99%)
Fused toes	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%)
Limited elbow extension	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Abnormal morphology of ulna	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Duplication of big toe bone	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Oligodactyly	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Phocomelia	Rarely (1–4%)
Absent fingers	Not recorded
Dislocated radial head	Not recorded
Elbow flexion contracture	Not recorded
Hypoplastic radial head	Not recorded
Underdeveloped outer large forearm bone	Not recorded
Webbed 2nd and 3rd toes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed CNS myelination	Always
Motor delay	Always
Repetitive movements	Always
Abnormally low-pitched voice	Very often (80–99%)
Attention deficit	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Abnormal speech pattern	Often (30–79%)
Aggressive behavior	Often (30–79%)
Anxiety	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Self-injurious behavior	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%)
Peripheral neuropathy	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Coronal hypospadias	Always
Hydronephrosis	Always
Hypospadias	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Small labia majora	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Abnormality of the uterus	Sometimes (5–29%)
Cystic kidney disease	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Primary amenorrhea	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Abnormal kidney location	Not recorded
Reduced renal corticomedullary differentiation	Not recorded
Small male external genitalia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor suck	Always
Acid reflux	Very often (80–99%)
Absent anus	Often (30–79%)
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Anteriorly placed anus	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Volvulus	Sometimes (5–29%)
Malrotation of colon	Not recorded
Stomach hernia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Phthisis bulbi	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Astigmatism	Not recorded
Bulging eye	Not recorded
Optic atrophy	Not recorded
Optic disc coloboma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Always
Delayed bone maturation	Very often (80–99%)
Joint stiffness	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Extra ribs	Not recorded
Short sternum	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Often (30–79%)
Heart murmur	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%)
Enlarged heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Tetralogy of Fallot	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Absent ear canal	Very often (80–99%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Abnormal incisura morphology	Not recorded
Middle ear infection	Not recorded

Growth abnormality

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

Abnormality of prenatal development or birth

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

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Very often (80–99%)
Excessive hairiness	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Not recorded

Abnormality of the breast

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

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Not recorded

Abnormality of the voice

Trait	How often it is seen
Weak cry	Always

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Sometimes (5–29%)

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 NIPBL and how often each is seen. Find out more at hpo.jax.org.

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