Traits

Traits linked to IDUA

alpha-L-iduronidase

The Human Phenotype Ontology links 119 traits to IDUA, 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 large tongue	Always
Big calvaria	Always
Coarse facial features	Always
Enlargement of skull bones	Always
Frontal bossing	Always
Full lips	Always
Overgrowth of skullcap	Always
Wide nasal bridge	Always
Depressed nasal bridge	Very often (80–99%)
Full cheeks	Very often (80–99%)
Large face	Very often (80–99%)
Nasal inflammation	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short neck	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Drooping lower lip	Often (30–79%)
Long, narrow head	Often (30–79%)
Wide mouth	Sometimes (5–29%)
Big lower jaw	Not recorded
Broad face	Not recorded
Broad nasal tip	Not recorded
Decreased size of tooth	Not recorded
Gum enlargement	Not recorded
J-shaped sella turcica	Not recorded
Little lower jaw	Not recorded
Wide nose	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Dysostosis multiplex	Always
Hand pain	Always
Joint stiffness	Always
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral morphology	Very often (80–99%)
Abnormality of the skeletal system	Very often (80–99%)
Hernia	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Abnormal collarbone	Often (30–79%)
Abnormal shape of end part of bone	Often (30–79%)
Abnormality of the ribs	Often (30–79%)
C1-C2 subluxation	Often (30–79%)
Narrow pelvis bone	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Scoliosis	Often (30–79%)
Spastic paraparesis	Sometimes (5–29%)
Biconcave vertebral bodies	Not recorded
Displacement of one backbone compared to another	Not recorded
Flared iliac wing	Not recorded
Flexed joint that cannot be straightened	Not recorded
Hunched back	Not recorded
Hypoplasia of the odontoid process	Not recorded
Short collarbone	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Mitral stenosis	Always
Narrowing of aortic valve	Always
Abnormal heart valve morphology	Very often (80–99%)
Abnormality of the tonsils	Very often (80–99%)
Aortic regurgitation	Very often (80–99%)
Disease of the heart muscle	Very often (80–99%)
Increased spleen size	Very often (80–99%)
Mitral regurgitation	Very often (80–99%)
High blood pressure	Often (30–79%)
Angina pectoris	Sometimes (5–29%)
Endocardial fibroelastosis	Sometimes (5–29%)
Enlarged tonsils	Not recorded
Increased blood pressure in blood vessels of lungs	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal nerve conduction velocity	Very often (80–99%)
Cerebral palsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal pyramidal sign	Often (30–79%)
Depression	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Abnormal CNS myelination	Not recorded
Cervical cord compression	Not recorded
Constrictive median neuropathy	Not recorded
Obstructive sleep apnea	Not recorded
Ongoing loss of nerve cells	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	Always
Contracture of the distal interphalangeal joint of the fingers	Always
Permanent flexion of the finger	Always
Thenar muscle atrophy	Always
Abnormal shape of shaft of long bone	Often (30–79%)
Abnormality of the elbow	Often (30–79%)
Coxa valga	Not recorded
High-arched foot	Not recorded
Knock knees	Not recorded
Small head of thigh bone	Not recorded
Thickening of shaft or central part of long bones	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Always
Drooping of both upper eyelids	Always
Wide-set eyes	Always
Glaucoma	Very often (80–99%)
Noninflammatory retina disease	Often (30–79%)
Retina degeneration	Sometimes (5–29%)
Opacification of the corneal stroma	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Always
Inguinal hernia	Always
Umbilical hernia	Always
Enlarged liver	Very often (80–99%)
Chronic diarrhea	Often (30–79%)
Feeding difficulties	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Very often (80–99%)
Mongolian blue spot	Often (30–79%)
Abnormal skin pigmentation	Sometimes (5–29%)
Excessive hairiness	Not recorded
Thickened skin	Not recorded

Laboratory abnormality

Trait	How often it is seen
Dermatan sulfate excretion in urine	Always
Diminished tissue alpha-L-iduronidase activity	Always
Heparan sulfate excretion in urine	Always
Mucopolysacchariduria	Very often (80–99%)
Urinary glycosaminoglycan excretion	Not recorded

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Not recorded

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

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