Traits

Traits linked to MINPP1

multiple inositol-polyphosphate phosphatase 1

The Human Phenotype Ontology links 40 traits to MINPP1, by body system: features seen in people with one of the gene's rare conditions.

MINPP1

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Delayed fine motor development	Always
Delayed motor skills	Always
Small cerebellum	Always
Ventriculomegaly	Always
Abnormality of extrapyramidal motor function	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Epilepsy	Very often (80–99%)
Thin corpus callosum	Often (30–79%)
Hypoplasia of the pons	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Spastic tetraplegia	Always
Muscle degeneration	Very often (80–99%)
Scoliosis	Very often (80–99%)
Bone pain	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Follicular thyroid carcinoma	Very often (80–99%)
Nodular goiter	Very often (80–99%)
Enlarged thyroid gland in neck	Often (30–79%)
Papillary thyroid carcinoma	Sometimes (5–29%)
Non-medullary thyroid carcinoma	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Clouding of the lens of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Optic atrophy	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of blood vessel of neck	Very often (80–99%)
Prominent nose	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal lymph node histology	Often (30–79%)
Chronic noninfectious lymphadenopathy	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Colon cancer	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Sometimes (5–29%)
Papillary renal cell carcinoma	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Chronic lung disease	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Head and neck tumor	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Pain	Sometimes (5–29%)

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 MINPP1 and how often each is seen. Find out more at hpo.jax.org.

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