Traits

Traits linked to UFSP2

UFM1 specific peptidase 2

The Human Phenotype Ontology links 85 traits to UFSP2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Small cerebellum	Always
Waddling gait	Always
Encephalopathy	Very often (80–99%)
Abnormality of coordination	Often (30–79%)
Absent speech development	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed speech and language development	Often (30–79%)
EEG with multifocal slow activity	Often (30–79%)
Epilepsy	Often (30–79%)
Infantile spasms	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal myelination	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Focal clonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Repeated seizures without recovery between them	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Irregular acetabular roof	Always
Metaphyseal dysplasia	Always
Abnormal maturation of thigh bone head and neck	Very often (80–99%)
Abnormality of the end part of the innermost thighbone	Very often (80–99%)
Broad femoral neck	Very often (80–99%)
Coxa vara	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Avascular necrosis of the capital femoral epiphysis	Not recorded
Delayed maturation of wrist bone	Not recorded
Flat end part of innermost thighbone	Not recorded
Irregular end part of innermost thighbone	Not recorded
Outward bow-leggedness	Not recorded
Shallow acetabular fossae	Not recorded
Wide metaphysis of innermost thighbone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Low solidness and mass of the bones	Always
Abnormal bone maturation	Very often (80–99%)
Abnormal formation of the hip	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Abnormality of bone mineral density	Very often (80–99%)
Degenerative joint disease	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Hunched back	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Flattened vertebrae	Not recorded

Abnormality of the eye

Trait	How often it is seen
Esodeviation	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Abnormality of vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High forehead	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Often (30–79%)
Growth delay as children	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	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 UFSP2 and how often each is seen. Find out more at hpo.jax.org.

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