Traits

Traits linked to INPP5K

inositol polyphosphate-5-phosphatase K

The Human Phenotype Ontology links 22 traits to INPP5K, 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
Low muscle tone	Very often (80–99%)
Hunched back	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Reduced spine movement	Sometimes (5–29%)
Gowers sign	Not recorded
Increased adipose tissue	Not recorded
Prominent swayback	Not recorded
Proximal neurogenic muscle weakness	Not recorded
Scoliosis	Not recorded
Wasting of muscles near the body	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Very often (80–99%)
Epilepsy	Sometimes (5–29%)
Abnormal gait	Not recorded
Global developmental delay	Not recorded
Intellectual disability	Not recorded
Toe walking	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Cross-eyed	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 INPP5K and how often each is seen. Find out more at hpo.jax.org.

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