Traits

Traits linked to SPART

spartin

The Human Phenotype Ontology links 74 traits to SPART, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Always
Difficulty articulating speech	Always
Impaired vibration sensation at ankles	Always
Increased reflexes	Always
Intellectual disability, mild	Always
Lack of coordination of movement	Always
Motor delay	Always
Abnormal shape of brain	Often (30–79%)
Abnormality of the cerebellum	Often (30–79%)
Cognitive impairment	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Slurred speech	Often (30–79%)
Specific learning disability	Often (30–79%)
Anxiety	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Speech apraxia	Sometimes (5–29%)
Abnormal gait	Not recorded
Degeneration of cerebellum	Not recorded
Knee clonus	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Hyperextensible hand joints	Always
Kyphoscoliosis	Always
Lower limb spasticity	Always
Spastic paraplegia	Always
Spastic walk	Always
Abnormality of the skeletal system	Often (30–79%)
Double-Jointed	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Muscle degeneration	Often (30–79%)
Spastic dysarthria	Often (30–79%)
Spastic paraparesis	Often (30–79%)
Flexed joint that cannot be straightened	Not recorded
Permanent flexion of the finger or toe	Not recorded
Uncontrollable movement in upper arms	Not recorded

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always
Lower limb muscle weakness	Always
Short foot	Always
Ulnar deviation of the hand	Always
Abnormal feet structure	Often (30–79%)
Abnormal shape of hand	Often (30–79%)
Abnormality of the hand	Often (30–79%)
Decreased arm strength	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Abnormality of the thumb	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Hammertoe	Not recorded
Short fingers or toes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Deep bite	Often (30–79%)
Abnormality of the nostrils	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Big midface	Not recorded
Drooling	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Poor swallowing	Always
Constipation	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Dull burning sensation with urination	Often (30–79%)
Hydronephrosis	Rarely (1–4%)
Urinary urgency	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	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 SPART and how often each is seen. Find out more at hpo.jax.org.

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