Traits

Traits linked to GALNS

galactosamine (N-acetyl)-6-sulfatase

The Human Phenotype Ontology links 46 traits to GALNS, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Anterior beaking of lumbar vertebrae	Always
Disproportionate short-trunked short stature	Always
Dysostosis multiplex	Always
Pigeon chest	Always
Rounded lower back	Always
Scoliosis	Always
Cervical subluxation	Not recorded
Constricted iliac wing	Not recorded
Double-Jointed	Not recorded
Epiphyseal deformities of tubular bones	Not recorded
Flaring of rib cage	Not recorded
Flattened vertebrae	Not recorded
Hunched back	Not recorded
Hypoplasia of the odontoid process	Not recorded
Osteoporosis	Not recorded
Ovoid vertebral bodies	Not recorded
Prominent sternum	Not recorded
Prominent swayback	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Short neck	Always
Big lower jaw	Not recorded
Coarse facial features	Not recorded
Dental cavities	Not recorded
Grayish enamel	Not recorded
Recurrent colds	Not recorded
Wide mouth	Not recorded
Widely spaced teeth	Not recorded

Abnormality of limbs

Trait	How often it is seen
Knock knees	Always
Broad wide portion of long bone	Not recorded
Coxa valga	Not recorded
Large elbow	Not recorded
Pointed proximal second through fifth metacarpals	Not recorded
Ulnar deviation of the wrist	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Motor delay	Always
Waddling gait	Always
Cervical myelopathy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded
Inguinal hernia	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Bronchoconstriction	Always
Stiff lung or chest wall causing decreased lung volume	Not recorded

Laboratory abnormality

Trait	How often it is seen
Chondroitin sulfate excretion in urine	Not recorded
Keratan sulfate excretion in urine	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart valve morphology	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Opacification of the corneal stroma	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	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 GALNS and how often each is seen. Find out more at hpo.jax.org.

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