Traits

Traits linked to PPP1R21

protein phosphatase 1 regulatory subunit 21

The Human Phenotype Ontology links 60 traits to PPP1R21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Broad columella	Alltid
Low hanging columella	Alltid
Nasal tip, upturned	Alltid
Short nose	Alltid
Coarse facial features	Ofte (30–79 %)
Corners of eye widely separated	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Flat back of skull	Ofte (30–79 %)
Full lips	Ofte (30–79 %)
High forehead	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Long philtrum	Ofte (30–79 %)
Narrow forehead	Ofte (30–79 %)
Narrow nasal bridge	Ofte (30–79 %)
Thick eyebrow	Ofte (30–79 %)
Upward slanting of the opening between the eyelids	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Asymmetry of the posterior head	Noen ganger (5–29 %)
Delayed cranial suture closure	Noen ganger (5–29 %)
Flattened bony protrusion above eyes	Noen ganger (5–29 %)
Short chin	Noen ganger (5–29 %)
Tented mouth	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Cerebellar vermis hypoplasia	Alltid
Decreased reflex response	Alltid
Global developmental delay	Alltid
Severe global developmental delay	Alltid
Ventriculomegaly	Alltid
Attention deficit	Ofte (30–79 %)
Cavum septum pellucidum	Ofte (30–79 %)
Difficulty articulating speech	Ofte (30–79 %)
Extra-axial cerebrospinal fluid accumulation	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Inability to walk	Ofte (30–79 %)
Underdevelopment of part of brain called corpus callosum	Ofte (30–79 %)
Absent reflexes	Noen ganger (5–29 %)
Myoclonic seizure	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Blue outer white part of eyeball	Ofte (30–79 %)
Close sighted	Ofte (30–79 %)
Inward turning cross eyed	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Rotary nystagmus	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Alltid
Delayed bone maturation	Ofte (30–79 %)
Flexed joint that cannot be straightened	Ofte (30–79 %)
Pigeon chest	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Chronic constipation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Enlarged liver	Noen ganger (5–29 %)
Poor suck	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Overlapping fingers	Noen ganger (5–29 %)
Overlapping toe	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Recurrent respiratory infections	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Excessive face hair	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulties	Ofte (30–79 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Weak cry	Ofte (30–79 %)

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 PPP1R21 and how often each is seen. Find out more at hpo.jax.org.

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