Traits

Traits linked to TUBB

tubulin beta class I

The Human Phenotype Ontology links 66 traits to TUBB, 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
Abnormally small head	Always
Eye folds	Always
Narrow mouth	Always
Short opening between the eyelids	Always
Small head present at birth	Always
Broad head shape	Often (30–79%)
Cleft palate	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Flat face	Often (30–79%)
High palate	Often (30–79%)
Long philtrum	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Short neck	Often (30–79%)
Abnormality of the face	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Fullness around the eyes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Dysgenesis of the basal ganglia	Always
Global developmental delay	Always
Intellectual disability	Always
Ataxia	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Cortical dysplasia	Often (30–79%)
Dilated fourth ventricle	Often (30–79%)
Focal polymicrogyria	Often (30–79%)
Partial agenesis of the corpus callosum	Often (30–79%)
Small brainstem	Often (30–79%)
Subcortical band heterotopia	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Cerebellar vermis atrophy	Sometimes (5–29%)
Localized neuroblastoma	Sometimes (5–29%)
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Retinal dysplasia	Often (30–79%)
Wide-set eyes	Often (30–79%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Circumferential skin creases on extremities	Always
Increased number of skin folds	Very often (80–99%)
Thickened skin	Very often (80–99%)
Irregular hyperpigmentation	Often (30–79%)
Excessive hairiness over body	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Ears rotated toward back of head	Often (30–79%)
Overfolded ears	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal scrotum morphology	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Smaller than typical growth of scrotum	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Left and right leg differ in length or width	Sometimes (5–29%)
Long fingers	Sometimes (5–29%)
Unequal size of arms	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Muscular abnormality	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Small nipples	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Very often (80–99%)

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

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