AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Traits
Traits linked to INPP5E
inositol polyphosphate-5-phosphatase E
The Human Phenotype Ontology links 116 traits to INPP5E, by body system: features seen in people with one of the gene's rare conditions.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Abnormality of the nervous system
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Always |
| Drooping upper eyelid | Always |
| Oculomotor apraxia | Always |
| Breakdown of light-sensitive cells in back of eye | Very often (80–99%) |
| Visual impairment | Very often (80–99%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Often (30–79%) |
| Cat eye | Often (30–79%) |
| Clouding of the lens of the eye | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Optic disc coloboma | Often (30–79%) |
| Progressive night blindness | Often (30–79%) |
| Retinal atrophy | Often (30–79%) |
| Hole in the back of the eye | Sometimes (5–29%) |
| Optic disc pallor | Sometimes (5–29%) |
| Retinal dysplasia | Sometimes (5–29%) |
| Visual loss | Sometimes (5–29%) |
| Abnormal saccadic eye movements | Not recorded |
| Abnormality of ocular smooth pursuit | Not recorded |
| Decreased clarity of vision | Not recorded |
| Difficulties with night vision | Not recorded |
| Extreme sensitivity of the eyes to light | Not recorded |
| Impaired smooth pursuit | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Decreased width of the skull | Often (30–79%) |
| Long face | Often (30–79%) |
| Abnormally small head | Sometimes (5–29%) |
| Asymmetry of the posterior head | Sometimes (5–29%) |
| Big calvaria | Sometimes (5–29%) |
| Brain tissue sticks out through back of skull | Sometimes (5–29%) |
| Cleft of the mouth | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Encephalocele | Sometimes (5–29%) |
| Highly arched eyebrow | Sometimes (5–29%) |
| Nasal tip, upturned | Sometimes (5–29%) |
| Prominent nasal bridge | Sometimes (5–29%) |
| Abnormally large tongue | Not recorded |
| Eye folds | Not recorded |
| Prominent forehead | Not recorded |
| Protruding tongue | Not recorded |
| Triangular-shaped open mouth | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Very often (80–99%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Very often (80–99%) |
| Intrahepatic biliary atresia | Very often (80–99%) |
| Feeding difficulties | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
| Chronic liver failure | Sometimes (5–29%) |
| Enlarged colon lacking nerve cells | Sometimes (5–29%) |
| Hepatic fibrosis | Sometimes (5–29%) |
| Inguinal hernia | Sometimes (5–29%) |
| Liver cancer | Sometimes (5–29%) |
| Scar tissue replaces healthy tissue in the liver | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Kidney damage | Always |
| Short penis | Very often (80–99%) |
| Abnormality of the kidney | Sometimes (5–29%) |
| Cystic kidney disease | Sometimes (5–29%) |
| Multicystic kidney dysplasia | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Generalized decreased muscle tone | Always |
| Poor head control | Always |
| Low muscle tone | Very often (80–99%) |
| Abnormal vertebral body morphology | Sometimes (5–29%) |
| Abnormal vertebral morphology | Sometimes (5–29%) |
| Scoliosis | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of digit | Always |
| Duplication of bones of the toes | Sometimes (5–29%) |
| Extra finger | Sometimes (5–29%) |
| Extra little finger | Sometimes (5–29%) |
| Extra toe attached near the little toe | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| All organs on wrong side of body | Sometimes (5–29%) |
| Heart tip and four chambers point towards right side of body | Sometimes (5–29%) |
| Increased spleen size | Sometimes (5–29%) |
| Portal hypertension | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal pattern of respiration | Very often (80–99%) |
| Apnea | Very often (80–99%) |
| Episodic tachypnea | Very often (80–99%) |
| Central apnea | Not recorded |
| Impaired breathing in newborn | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Always |
| Ears rotated toward back of head | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Childhood-onset truncal obesity | Always |
| Truncal obesity | Very often (80–99%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| High liver enzymes | Very often (80–99%) |
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 INPP5E and how often each is seen. Find out more at hpo.jax.org.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks