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Traits

Traits linked to RPL35A

ribosomal protein L35a

The Human Phenotype Ontology links 61 traits to RPL35A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Elevated red cell adenosine deaminase activityMeget ofte (80–99 %)
Pure red cell aplasiaMeget ofte (80–99 %)
Erythroid hypoplasiaOfte (30–79 %)
Increased mean corpuscular volumeOfte (30–79 %)
Macrocytic dyserythropoietic anemiaOfte (30–79 %)
Persistence of hemoglobin FOfte (30–79 %)
ReticulocytopeniaOfte (30–79 %)
Decreased blood leukocyte numberNogle gange (5–29 %)
MyelodysplasiaNogle gange (5–29 %)
Normochromic anemiaNogle gange (5–29 %)
Acute myeloid leukemiaSjældent (1–4%)
Increased number of platelets in bloodSjældent (1–4%)
Low blood neutrophil countSjældent (1–4%)
Low platelet countSjældent (1–4%)
Macrocytic anemiaIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Abnormality of the headOfte (30–79 %)
Cleft lipNogle gange (5–29 %)
Cleft soft palateNogle gange (5–29 %)
High palateNogle gange (5–29 %)
Short neckNogle gange (5–29 %)
Webbed neckNogle gange (5–29 %)
Abnormally small headSjældent (1–4%)
Depressed nasal bridgeSjældent (1–4%)
Eye foldsSjældent (1–4%)
Little lower jawSjældent (1–4%)
Low frontal hairlineSjældent (1–4%)
Wide nasal bridgeSjældent (1–4%)

Abnormality of limbs

TraitHvor ofte det ses
Abnormality of the thenar eminenceNogle gange (5–29 %)
Abnormality of the upper limbNogle gange (5–29 %)
Absent thumbNogle gange (5–29 %)
Finger-like thumbNogle gange (5–29 %)
Partial duplication of the thumb bonesNogle gange (5–29 %)
Short thumbNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Abnormality of the heartNogle gange (5–29 %)
An opening in the wall separating the top two chambers of the heartNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)
Radial artery aplasiaNogle gange (5–29 %)
Narrowing of aortaSjældent (1–4%)

Abnormality of the eye

TraitHvor ofte det ses
Clouding of the lens of the eye at birthSjældent (1–4%)
Cross-eyedSjældent (1–4%)
Developmental glaucomaSjældent (1–4%)
Drooping upper eyelidSjældent (1–4%)
Wide-set eyesSjældent (1–4%)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Abnormality of the genitourinary systemNogle gange (5–29 %)
Absent kidneyNogle gange (5–29 %)
Horseshoe kidneyNogle gange (5–29 %)
HypospadiasNogle gange (5–29 %)
Malignant genitourinary tract tumorSjældent (1–4%)

Abnormality of the nervous system

TraitHvor ofte det ses
LethargyOfte (30–79 %)
Neurodevelopmental delayNogle gange (5–29 %)
Global developmental delayIkke registreret

Growth abnormality

TraitHvor ofte det ses
Growth delayOfte (30–79 %)
Small for gestational ageOfte (30–79 %)
Short statureNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Low-set earsSjældent (1–4%)
Small earsSjældent (1–4%)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
High shoulder bladeNogle gange (5–29 %)
Bone cell cancerSjældent (1–4%)

Abnormality of the digestive system

TraitHvor ofte det ses
Adenocarcinoma of the colonSjældent (1–4%)

Abnormality of the integument

TraitHvor ofte det ses
PalenessOfte (30–79 %)

Laboratory abnormality

TraitHvor ofte det ses
Nonimmune hydrops fetalisSjældent (1–4%)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to RPL35A and how often each is seen. Find out more at hpo.jax.org.

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