Traits

Traits linked to B3GLCT

beta 3-glucosyltransferase

The Human Phenotype Ontology links 133 traits to B3GLCT, 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
Broad head shape	Very often (80–99%)
Exaggerated cupid's bow	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long face	Very often (80–99%)
Long philtrum	Very often (80–99%)
Round face	Very often (80–99%)
Short columella	Very often (80–99%)
Short neck	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Broad neck	Often (30–79%)
Cleft palate	Often (30–79%)
Cleft upper lip	Often (30–79%)
Frontal bossing	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Prominent forehead	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Webbed neck	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Both sided cleft lip	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Absence of upper lateral incisor	Not recorded
Cone shaped front tooth	Not recorded
Decreased size of maxilla	Not recorded
Decreased volume of lip	Not recorded
Deformity of the skull	Not recorded
Short lingual frenulum	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad palm	Always
Short palm	Always
Curvature of little finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short foot	Very often (80–99%)
Short toe	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Fused toes	Often (30–79%)
Disproportionately short upper portion of limb	Sometimes (5–29%)
Attachment of thumb close to wrist	Not recorded
Broad foot	Not recorded
High-arched foot	Not recorded
Limited elbow movement	Not recorded
Short long bone of foot	Not recorded
Shortened long bone of hand	Not recorded
Single transverse palmar crease	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the eye

Trait	How often it is seen
Anterior chamber synechiae	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Glaucoma	Very often (80–99%)
Peters anomaly	Very often (80–99%)
Abnormality of vision	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Wide-set eyes	Often (30–79%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Cat eye	Not recorded
Close sighted	Not recorded
Drooping upper eyelid	Not recorded
Hole in the back of the eye	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Absent/small kidney	Sometimes (5–29%)
Double ureter	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Small clitoris	Sometimes (5–29%)
Small uterus	Sometimes (5–29%)
Small kidneys	Not recorded
Small labia majora	Not recorded
Underdeveloped vagina	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Absent anus	Sometimes (5–29%)
Extra kidney	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal fistula	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Anteriorly placed anus	Not recorded
Biliary tract abnormality	Not recorded
Bilobate gallbladder	Not recorded
Gap between large left and right abdominal muscles	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Degeneration of cerebrum	Not recorded
Epilepsy	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Abnormality of lung artery	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Patent ductus arteriosus	Sometimes (5–29%)
Abnormal pulmonary vein morphology	Rarely (1–4%)
Bicuspid pulmonary valve	Rarely (1–4%)
Underdeveloped left heart	Rarely (1–4%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded

Abnormality of the ear

Trait	How often it is seen
Cockleshell ear	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Not recorded
Low-set ears	Not recorded
Narrow ear canal	Not recorded
Prominent ear	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of pelvic girdle bone	Not recorded
Double-Jointed	Not recorded
Funnel chest	Not recorded
Missing part of vertebrae	Not recorded
Scoliosis	Not recorded
Square pelvis bone	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always
Prenatal growth deficiency	Very often (80–99%)
Growth delay as children	Often (30–79%)
Short stature	Often (30–79%)
Birth length less than 3rd percentile	Not recorded
Decreased body weight	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Anterior hypopituitarism	Sometimes (5–29%)
Underactive thyroid gland from birth	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Sometimes (5–29%)
Increased facial hair growth	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	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 B3GLCT and how often each is seen. Find out more at hpo.jax.org.

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