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Traits
Traits linked to USP9X
ubiquitin specific peptidase 9 X-linked
The Human Phenotype Ontology links 115 traits to USP9X, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Intellectual disability | Always |
| IQ between 34 and 49 | Very often (80–99%) |
| Abnormal cortical gyration | Often (30–79%) |
| Small cerebellum | Often (30–79%) |
| Underdevelopment of part of brain called corpus callosum | Often (30–79%) |
| Ventriculomegaly | Often (30–79%) |
| Abnormal gait | Sometimes (5–29%) |
| Absent/small cerebellum | Sometimes (5–29%) |
| Aggressive behavior | Sometimes (5–29%) |
| Autism spectrum disorder | Sometimes (5–29%) |
| Brain degeneration | Sometimes (5–29%) |
| Cerebellar vermis hypoplasia | Sometimes (5–29%) |
| Dilated fourth ventricle | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Obsessive compulsive behavior | Sometimes (5–29%) |
| Small brainstem | Sometimes (5–29%) |
| Delayed speech and language development | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad thumb | Often (30–79%) |
| Left and right leg differ in length or width | Often (30–79%) |
| Postaxial polydactyly | Often (30–79%) |
| Broad big toe | Sometimes (5–29%) |
| Bunion | Sometimes (5–29%) |
| Curved fingers | Sometimes (5–29%) |
| Dislocated hip since birth | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| High-arched foot | Sometimes (5–29%) |
| Overlapping toe | Sometimes (5–29%) |
| Partial knee cap dislocation | Sometimes (5–29%) |
| Short foot | Sometimes (5–29%) |
| Slender finger | Sometimes (5–29%) |
| Small hand | Sometimes (5–29%) |
| Tapered finger | Sometimes (5–29%) |
| Hip dislocation | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Always |
| Abnormal formation of the hip | Often (30–79%) |
| Decreased muscle tone in infant | Often (30–79%) |
| Generalized decreased muscle tone | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Double jointed thumb | Sometimes (5–29%) |
| Double-Jointed | Sometimes (5–29%) |
| Limitation of joint mobility | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Thoracolumbar scoliosis | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye | Often (30–79%) |
| Astigmatism | Sometimes (5–29%) |
| Close sighted | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Farsightedness | Sometimes (5–29%) |
| Abnormally close eyes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Absent anus | Often (30–79%) |
| Abnormality of the abdominal wall | Sometimes (5–29%) |
| Acid reflux | Sometimes (5–29%) |
| Chronic constipation | Sometimes (5–29%) |
| Cyst of the ductus choledochus | Sometimes (5–29%) |
| Feeding difficulties | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the genitourinary system | Often (30–79%) |
| Abnormal kidney location | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Renal dysplasia | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Depigmentation/hyperpigmentation of skin | Often (30–79%) |
| Curly hair | Sometimes (5–29%) |
| Excessive hair growth | Sometimes (5–29%) |
| Spinal dimple | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Disease of the heart muscle | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Often (30–79%) |
| Ears rotated toward back of head | Sometimes (5–29%) |
| Low-set ears | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormal thyroid function | Often (30–79%) |
| Abnormal circulating thyroid hormone concentration | Sometimes (5–29%) |
| Delayed puberty | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| 1-minute APGAR score of 1 | Sometimes (5–29%) |
| 5-minute APGAR score of 5 | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| One underdeveloped breast | Sometimes (5–29%) |
| Small nipples | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Sometimes (5–29%) |
| Floppy windpipe | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Often (30–79%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent respiratory infections | Often (30–79%) |
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 USP9X and how often each is seen. Find out more at hpo.jax.org.
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