Traits

Traits linked to MAN2B2

mannosidase alpha class 2B member 2

The Human Phenotype Ontology links 51 traits to MAN2B2, by body system: features seen in people with one of the gene's rare conditions.

MAN2B2

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally low T cell receptor excision circle level	Always
Decreased blood lymphocyte number	Always
Decreased naive CD4+ T cell proportion	Always
Decreased naive CD8+ T cell proportion	Always
Decreased total CD4+ T cell proportion	Always
Increased CD21low B cell proportion	Always
Increased plasmablast proportion	Always
Inverted CD4:CD8 ratio	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Thromboembolic stroke	Always

Abnormality of the nervous system

Trait	How often it is seen
Choking episodes	Always
Delayed ability to crawl	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Drowsiness	Always
Encephalomalacia	Always
Epilepsy	Always
Gliosis	Always
Weakness of one side of body	Always
Global developmental delay	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the liver	Always
Chronic diarrhea	Always
Enlarged liver	Always
Episodic vomiting	Always
Inguinal hernia	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Chronic oral thrush	Always
Short chin	Always
Cleft palate	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hip osteoarthritis	Always
Low muscle tone	Always
Poor head control	Always
Wrist arthritis	Always

Laboratory abnormality

Trait	How often it is seen
Dehydration	Always
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
High ESR	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased antigen-specific T cell proliferation	Always
Decreased circulating IgG concentration	Always
Increased circulating IgE concentration	Always

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Always
Recurrent oral herpes	Always
Recurrent pneumonia	Always

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Wide-set eyes	Always

Abnormality of limbs

Trait	How often it is seen
Knee osteoarthritis	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Inflammation of blood vessel	Always

Abnormality of the endocrine system

Trait	How often it is seen
Pineal cyst	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Always

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 MAN2B2 and how often each is seen. Find out more at hpo.jax.org.

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