Traits

Traits linked to CBS

cystathionine beta-synthase

The Human Phenotype Ontology links 89 traits to CBS, 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
Ataxia	Always
Brain degeneration	Always
Difficulty articulating speech	Always
Intellectual disability	Always
Unsteady walk	Always
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Obsessive-compulsive trait	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Global developmental delay	Not recorded
Personality disorder	Not recorded

Abnormality of the eye

Trait	How often it is seen
Outward facing eye ball	Always
Ectopia lentis	Very often (80–99%)
Close sighted	Often (30–79%)
Lazy eye	Often (30–79%)
Partially dislocated lens	Often (30–79%)
Retinal detachment	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Funnel chest	Often (30–79%)
Hunched back	Often (30–79%)
Joint stiffness	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Pigeon chest	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)
Biconcave vertebral bodies	Not recorded
Generalized osteoporosis	Not recorded
Limitation of joint mobility	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Arteriovenous malformation	Often (30–79%)
Blood clot in artery of lung	Often (30–79%)
Disruption of blood oxygen supply to brain	Often (30–79%)
High blood pressure	Often (30–79%)
Hives	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Cutis marmorata	Not recorded
Heart attack	Not recorded
Mitral valve prolapse	Not recorded
Stroke	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood homocystine	Always
Increased methionine in blood	Always
Abnormality of amino acid metabolism	Very often (80–99%)
High liver enzymes	Sometimes (5–29%)
Fatty infiltration of liver	Not recorded
High urine homocystine levels	Not recorded
Methioninuria	Not recorded
Reduced cystathionine beta-synthase activity in cultured fibroblasts	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in artery	Often (30–79%)
Blood clot in vein	Often (30–79%)
Bleeding below the skin	Sometimes (5–29%)
Bleeding within the skull	Sometimes (5–29%)
Cerebral venous sinus thrombosis	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Thromboembolism	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Enlarged vein in esophagus	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Inguinal hernia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dental crowding	Very often (80–99%)
Sparse scalp hair	Often (30–79%)
High palate	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Very often (80–99%)
High-arched foot	Often (30–79%)
Knock knees	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Always
Patchy lightened skin	Sometimes (5–29%)
Brittle hair	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate tall stature	Always
Faltering weight	Sometimes (5–29%)
Tall stature	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Malar rash	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 CBS and how often each is seen. Find out more at hpo.jax.org.

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