Traits

Traits linked to EBP

EBP cholestenol delta-isomerase

The Human Phenotype Ontology links 131 traits to EBP, by body system: features seen in people with one of the gene's rare conditions.

EBP

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
High palate	Always
Little lower jaw	Always
Long neck	Always
Narrow eyelid opening	Always
Prominent nasal bridge	Always
Redundant neck skin	Always
Small anterior fontanelle	Always
Smooth philtrum	Always
Upward slanting of the opening between the eyelids	Always
Abnormality of the bridge of the nose	Often (30–79%)
Abnormality of the skull	Often (30–79%)
Asymmetry of the mouth	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Facial asymmetry	Often (30–79%)
Frontal bossing	Often (30–79%)
Midface retrusion	Often (30–79%)
Thickened skin folds of neck	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Hair loss on scalp from scarring condition	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Sparse eyelashes	Sometimes (5–29%)
Boxer's nasal deformity	Not recorded
Flat face	Not recorded
Short neck	Not recorded
Small retruded chin	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Low muscle tone in trunk	Always
Speckled calcifications in end part of bone	Very often (80–99%)
Abnormal bone maturation of vertebra	Often (30–79%)
Anterior rib punctate calcifications	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hypoplastic cervical vertebrae	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)
Neuropathic spinal arthropathy	Sometimes (5–29%)
Speckled calcifications in bone end parts in neonates	Sometimes (5–29%)
Abnormal shape of pelvic girdle bone	Not recorded
Abnormality of the chest	Not recorded
Calcific stippling	Not recorded
Punctate vertebral calcifications	Not recorded
Spasticity and rigidity of muscles	Not recorded
Tracheal calcification	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Always
Long fingers	Always
Overlapping fingers	Always
Overlapping toe	Always
Disproportionately short upper portion of limb	Often (30–79%)
Extra finger	Often (30–79%)
Increased muscle tone of arm or leg	Often (30–79%)
Left and right leg differ in length or width	Often (30–79%)
Unequal size of arms	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Club foot on both sides	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)
Asymmetric limb shortening	Not recorded
More than five fingers or toes on hands or feet	Not recorded
Stippled calcification in carpal bones	Not recorded
Tarsal stippling	Not recorded

Abnormality of the integument

Trait	How often it is seen
Patchy hypopigmentation	Always
Spinal dimple	Always
Abnormality of the skin	Very often (80–99%)
Patchy baldness	Very often (80–99%)
Erythematous plaque	Often (30–79%)
Ichthyosis	Often (30–79%)
Scaling skin	Often (30–79%)
Abnormal hair pattern	Sometimes (5–29%)
Abnormality of the nail	Sometimes (5–29%)
Coarse hair	Sometimes (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Sometimes (5–29%)
Congenital ichthyosiform erythroderma	Not recorded
Sparse hair	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Epilepsy	Always
Global developmental delay	Always
Abnormal auditory evoked potentials	Often (30–79%)
Abnormal social behavior	Often (30–79%)
Intellectual disability	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Rarely (1–4%)
IQ between 34 and 49	Not recorded

Abnormality of the eye

Trait	How often it is seen
Anterior polar cataract	Always
Decreased clarity of vision	Always
Inward turning cross eyed	Always
Macular hypoplasia	Always
Abnormally small eyeball	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Wide-set eyes	Often (30–79%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Glaucoma	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Overfolded ears	Always
Hearing impairment	Sometimes (5–29%)
Abnormally shaped ears	Rarely (1–4%)
Sensorineural hearing impairment	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Often (30–79%)
Severe growth delay in children	Sometimes (5–29%)
Growth delay as children	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated 8-dehydrocholesterol	Very often (80–99%)
Elevated 8(9)-cholestenol	Very often (80–99%)
Low blood sugar in newborn	Sometimes (5–29%)
Fluid retention	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Crossed fused renal ectopia	Always
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Anomalous tracheal cartilage	Often (30–79%)
Abnormality of lung structure	Sometimes (5–29%)
Narrowing of windpipe	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Abnormality of prenatal development or birth	Sometimes (5–29%)
High levels of amniotic fluid	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of aortic valve	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Red scaly skin caused by inflammatory skin disease	Often (30–79%)

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

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