Traits

Traits linked to CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

The Human Phenotype Ontology links 70 traits to CSGALNACT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Flat acetabular roof	Always
Increased mobility in finger joint	Always
Knock knees	Always
Monkey wrench femoral neck	Always
Single transverse palmar crease	Always
Smaller or shorter than typical limbs	Always
Webbed 2nd and 3rd toes	Always
Winged shoulder blade	Always
Abnormal neck or head of thigh bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Dislocated kneecap	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Back knee	Often (30–79%)
Coxa valga	Often (30–79%)
Coxa vara	Often (30–79%)
Curvature of index finger	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dropped arches	Often (30–79%)
Elbow dislocation	Often (30–79%)
Fused forearm bones	Often (30–79%)
Limited elbow extension	Often (30–79%)
Limited knee straightening	Often (30–79%)
Short fingers or toes	Often (30–79%)
Small hand	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Beaked nose	Always
Downward slanting of the opening between the eyelids	Always
Long philtrum	Always
Prominent nasal tip	Always
Round face	Always
Depressed nasal bridge	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short neck	Very often (80–99%)
Abnormal eyelashes	Often (30–79%)
Big calvaria	Often (30–79%)
Frontal bossing	Often (30–79%)
Increased nuchal translucency	Often (30–79%)
Midface retrusion	Often (30–79%)
Small retruded chin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Coronal cleft vertebrae	Always
Low muscle tone	Always
Scoliosis	Always
Bell-shaped thorax	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Butterfly vertebrae	Often (30–79%)
Funnel chest	Often (30–79%)
Joint dislocation	Often (30–79%)
Prominent swayback	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Motor delay	Always
Ventriculomegaly	Always
Intellectual disability	Very often (80–99%)
Absent septum pellucidum	Often (30–79%)
Periventricular heterotopia	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Tricuspid regurgitation	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Always
Bulging eye	Very often (80–99%)
Glaucoma	Very often (80–99%)
Blue outer white part of eyeball	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Disproportionate short-limb short stature	Very often (80–99%)
Severe short stature	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Absent/small abdominal wall muscles	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Always

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 CSGALNACT1 and how often each is seen. Find out more at hpo.jax.org.

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