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

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

Trait	나타나는 빈도
Blue outer white part of eyeball	자주 (30–79%)
Close sighted	자주 (30–79%)
Inward turning cross eyed	자주 (30–79%)
Optic atrophy	자주 (30–79%)
Rotary nystagmus	자주 (30–79%)
Wide-set eyes	자주 (30–79%)

Trait	나타나는 빈도
Low muscle tone	항상
Delayed bone maturation	자주 (30–79%)
Flexed joint that cannot be straightened	자주 (30–79%)
Pigeon chest	자주 (30–79%)
Scoliosis	자주 (30–79%)

Trait	나타나는 빈도
Overlapping fingers	가끔 (5–29%)
Overlapping toe	가끔 (5–29%)

Trait	나타나는 빈도
An opening in the wall separating the top two chambers of the heart	자주 (30–79%)
Enlarged and thickened heart muscle	가끔 (5–29%)

Trait	나타나는 빈도
Low-set ears	자주 (30–79%)

Trait	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)

Trait	나타나는 빈도
Excessive face hair	자주 (30–79%)

Trait	나타나는 빈도
Breathing difficulties	자주 (30–79%)

Trait	나타나는 빈도
Weak cry	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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