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Traits
Traits linked to UBAP2L
ubiquitin associated protein 2 like
The Human Phenotype Ontology links 81 traits to UBAP2L, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Decreased reflex response | Always |
| Delayed speech and language development | Always |
| Drowsiness | Always |
| Echoing another person's speech | Always |
| Hyperacusis | Always |
| Motor delay | Always |
| Oromandibular dystonia | Always |
| Pauses in breathing while sleeping | Always |
| Stuttering | Always |
| Tremor | Always |
| Intellectual disability | Very often (80–99%) |
| Aggressive behavior | Often (30–79%) |
| Anxiety | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Autism spectrum disorder | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Obsessive compulsive behavior | Often (30–79%) |
| Repetitive movements | Often (30–79%) |
| Self-injurious behavior | Often (30–79%) |
| Loss of developmental milestones | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Big lower jaw | Always |
| Broad forehead | Always |
| Bulbous nose | Always |
| Depressed nasal tip | Always |
| Drooping lower lip | Always |
| Eye folds | Always |
| Flat face | Always |
| High palate | Always |
| Long face | Always |
| Long philtrum | Always |
| Low frontal hairline | Always |
| Medial flaring of the eyebrow | Always |
| Metopic synostosis | Always |
| Monobrow | Always |
| Narrow eyelid opening | Always |
| Round face | Always |
| Thin red part of the upper lip | Always |
| Upward slanting of the opening between the eyelids | Always |
| Wide nasal bridge | Always |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad big toe | Always |
| Curvature of digit | Always |
| Dropped arches | Always |
| Finger joint contracture | Always |
| Front half of foot turns inward | Always |
| Fused thumb bones | Always |
| Internally rotated hips | Always |
| Short fingers or toes | Always |
| Short thighbone | Always |
| Short toe | Always |
| Thenar muscle atrophy | Always |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Astigmatism | Always |
| Close sighted | Always |
| Deeply set eye | Always |
| Farsightedness | Always |
| Involuntary, rapid, rhythmic eye movements | Always |
| Inward turning cross eyed | Always |
| Outward facing eye ball | Always |
| Wide-set eyes | Always |
| Visual impairment | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Crumpled ear | Always |
| Cupped ear | Always |
| Ears rotated toward back of head | Always |
| Small ears | Always |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Always |
| Frontal upsweep of hair | Always |
| Small nail | Always |
| Underdeveloped toenails | Always |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Joint stiffness | Always |
| Kyphoscoliosis | Always |
| Low muscle tone | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Always |
| Faltering weight | Often (30–79%) |
| Short stature | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Anhydramnios | Always |
| Feet or buttocks of fetus positioned near opening of uterus | Always |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Asthma | Always |
| Chronic bronchitis | Always |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Cutis marmorata | Always |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Frequent urinary tract infections | 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 UBAP2L and how often each is seen. Find out more at hpo.jax.org.
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