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.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Ataxia	Alltid
Delayed ability to sit	Alltid
Delayed ability to walk	Alltid
Delayed speech and language development	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
IQ between 34 and 49	Alltid
Molar tooth sign on MRI	Alltid
Absent/small cerebellum	Svært ofte (80–99 %)
Cerebellar vermis hypoplasia	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Aggressive behavior	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Intellectual disability, mild	Ofte (30–79 %)
Intellectual disability, severe	Ofte (30–79 %)
More active than typical	Ofte (30–79 %)
Poor speech	Ofte (30–79 %)
Abnormality of neuronal migration	Noen ganger (5–29 %)
Agenesis of corpus callosum	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the corpus callosum	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
More grooves in brain	Noen ganger (5–29 %)
Occipital myelomeningocele	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)
Agenesis of cerebellar vermis	Ikke registrert
Brainstem dysplasia	Ikke registrert
Dysgenesis of the cerebellar vermis	Ikke registrert
Elongated superior cerebellar peduncle	Ikke registrert
Enlarged fossa interpeduncularis	Ikke registrert
Self-mutilation	Ikke registrert
Small brainstem	Ikke registrert
Spasms on one side of the face	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Cross-eyed	Alltid
Drooping upper eyelid	Alltid
Oculomotor apraxia	Alltid
Breakdown of light-sensitive cells in back of eye	Svært ofte (80–99 %)
Visual impairment	Svært ofte (80–99 %)
Birth defect that causes a hole in the innermost layer at the back of the eye	Ofte (30–79 %)
Cat eye	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Optic disc coloboma	Ofte (30–79 %)
Progressive night blindness	Ofte (30–79 %)
Retinal atrophy	Ofte (30–79 %)
Hole in the back of the eye	Noen ganger (5–29 %)
Optic disc pallor	Noen ganger (5–29 %)
Retinal dysplasia	Noen ganger (5–29 %)
Visual loss	Noen ganger (5–29 %)
Abnormal saccadic eye movements	Ikke registrert
Abnormality of ocular smooth pursuit	Ikke registrert
Decreased clarity of vision	Ikke registrert
Difficulties with night vision	Ikke registrert
Extreme sensitivity of the eyes to light	Ikke registrert
Impaired smooth pursuit	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Decreased width of the skull	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Abnormally small head	Noen ganger (5–29 %)
Asymmetry of the posterior head	Noen ganger (5–29 %)
Big calvaria	Noen ganger (5–29 %)
Brain tissue sticks out through back of skull	Noen ganger (5–29 %)
Cleft of the mouth	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Encephalocele	Noen ganger (5–29 %)
Highly arched eyebrow	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Prominent nasal bridge	Noen ganger (5–29 %)
Abnormally large tongue	Ikke registrert
Eye folds	Ikke registrert
Prominent forehead	Ikke registrert
Protruding tongue	Ikke registrert
Triangular-shaped open mouth	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Enlarged liver	Svært ofte (80–99 %)
Excessive buildup of connective tissue and scarring of liver at birth	Svært ofte (80–99 %)
Intrahepatic biliary atresia	Svært ofte (80–99 %)
Feeding difficulties	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)
Chronic liver failure	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Hepatic fibrosis	Noen ganger (5–29 %)
Inguinal hernia	Noen ganger (5–29 %)
Liver cancer	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Kidney damage	Alltid
Short penis	Svært ofte (80–99 %)
Abnormality of the kidney	Noen ganger (5–29 %)
Cystic kidney disease	Noen ganger (5–29 %)
Multicystic kidney dysplasia	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Generalized decreased muscle tone	Alltid
Poor head control	Alltid
Low muscle tone	Svært ofte (80–99 %)
Abnormal vertebral body morphology	Noen ganger (5–29 %)
Abnormal vertebral morphology	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Curvature of digit	Alltid
Duplication of bones of the toes	Noen ganger (5–29 %)
Extra finger	Noen ganger (5–29 %)
Extra little finger	Noen ganger (5–29 %)
Extra toe attached near the little toe	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
All organs on wrong side of body	Noen ganger (5–29 %)
Heart tip and four chambers point towards right side of body	Noen ganger (5–29 %)
Increased spleen size	Noen ganger (5–29 %)
Portal hypertension	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormal pattern of respiration	Svært ofte (80–99 %)
Apnea	Svært ofte (80–99 %)
Episodic tachypnea	Svært ofte (80–99 %)
Central apnea	Ikke registrert
Impaired breathing in newborn	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Alltid
Ears rotated toward back of head	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Childhood-onset truncal obesity	Alltid
Truncal obesity	Svært ofte (80–99 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High liver enzymes	Svært ofte (80–99 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test