Traits

Traits linked to INPPL1

inositol polyphosphate phosphatase like 1

The Human Phenotype Ontology links 84 traits to INPPL1, by body system: features seen in people with one of the gene's rare conditions.

INPPL1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed maturation of end part of long bone	Always
Severe platyspondyly	Always
Short long bone	Always
Abnormal bone maturation of vertebra	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Hook-shaped collarbone	Very often (80–99%)
Hypoplastic ischia	Very often (80–99%)
Hypoplastic pubic bone	Very often (80–99%)
Narrow chest	Very often (80–99%)
Short ribs	Very often (80–99%)
Small shoulder blade	Very often (80–99%)
Small wings of the pelvic girdle	Very often (80–99%)
Squared iliac bones	Very often (80–99%)
Underdeveloped back bones	Very often (80–99%)
Low muscle tone	Often (30–79%)
Advanced bone age	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hypoplasia of the odontoid process	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Anterior rib cupping	Not recorded
Bell-shaped thorax	Not recorded
Generalized decreased muscle tone	Not recorded
Posterior rib cupping	Not recorded
Scoliosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Short nose	Always
Wide fontanelles	Always
Big calvaria	Very often (80–99%)
Decreased depth of eye sockets	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Short neck	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Broad opening between the eyelids	Often (30–79%)
Flat back of skull	Often (30–79%)
High forehead	Often (30–79%)
Long, narrow head	Often (30–79%)
Prominent forehead	Often (30–79%)
Relatively large head	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Little foramen magnum	Sometimes (5–29%)
Long philtrum	Not recorded
Nasal tip, upturned	Not recorded

Abnormality of limbs

Trait	How often it is seen
Metaphyseal cupping	Always
Short finger bones	Always
Short foot	Always
Short palm	Always
Shortened long bone of hand	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short calf bone	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Tapered finger	Very often (80–99%)
Wide calf bone	Very often (80–99%)
Accelerated ankle bone maturation	Sometimes (5–29%)
Broad thumb	Sometimes (5–29%)
Dumbbell-shaped long bone	Sometimes (5–29%)
Thickening of shaft or central part of long bones	Sometimes (5–29%)
Disproportionately short upper portion of limb	Not recorded
Flat acetabular roof	Not recorded

Laboratory abnormality

Trait	How often it is seen
Low blood phosphate level	Very often (80–99%)
Renal phosphate wasting	Very often (80–99%)
Swelling caused by excess lymph fluid under skin	Very often (80–99%)
Fluid retention	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Very often (80–99%)
Wide-set eyes	Often (30–79%)
Blue outer white part of eyeball	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Often (30–79%)
Soft, doughy skin	Often (30–79%)
Underdeveloped toenails	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)
Belly sticks out	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Severe short stature	Always
Disproportionate short-limb short stature	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 INPPL1 and how often each is seen. Find out more at hpo.jax.org.

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