Traits

Traits linked to DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

The Human Phenotype Ontology links 123 traits to DNAJC21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Abnormality of blood and blood-forming tissues	Very often (80–99%)
Bone marrow failure	Very often (80–99%)
Impaired neutrophil chemotaxis	Often (30–79%)
Increased mean corpuscular volume	Often (30–79%)
Low blood cell count	Often (30–79%)
Low platelet count	Often (30–79%)
Macrocytic anemia	Often (30–79%)
Myelodysplasia	Often (30–79%)
Normocytic anemia	Often (30–79%)
Persistence of hemoglobin F	Often (30–79%)
Persistently decreased total neutrophil count	Often (30–79%)
Transiently decreased total neutrophil count	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Aplastic anemia	Sometimes (5–29%)
Blood cancer	Sometimes (5–29%)
Decreased blood leukocyte number	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Anterior rib cupping	Always
Abnormality of the skeletal system	Very often (80–99%)
Delayed bone maturation	Often (30–79%)
Abnormal shape of joints	Sometimes (5–29%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Deformed rib cage	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Double-Jointed	Not recorded
Enlargement of the costochondral junction	Not recorded
Hernia	Not recorded
Irregular ossification at anterior rib ends	Not recorded
Low solidness and mass of the bones	Not recorded
Narrow chest	Not recorded
Narrow greater sciatic notch	Not recorded
Ovoid vertebral bodies	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Dental cavities	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)
Sinus disease	Sometimes (5–29%)
Delayed eruption of teeth	Rarely (1–4%)
Amelogenesis imperfecta	Not recorded
Decreased size of tooth	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Eye folds	Not recorded
Little lower jaw	Not recorded
Sparse or absent eyebrows	Not recorded
Thin dental enamel	Not recorded

Abnormality of limbs

Trait	How often it is seen
Proximal femoral metaphyseal irregularity	Always
Metaphyseal dysplasia	Often (30–79%)
Broad wide portion of long bone	Sometimes (5–29%)
Irregular wide portion of a long bone	Sometimes (5–29%)
Metaphyseal chondrodysplasia	Sometimes (5–29%)
Abnormalities of the fingers	Rarely (1–4%)
Slipped end part of innermost thighbone	Rarely (1–4%)
Coxa vara	Not recorded
Dislocated hip since birth	Not recorded
Increased bone density in wide portion of long bone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Hyperechogenic pancreas	Always
Abnormality of the gastrointestinal tract	Very often (80–99%)
Fat malabsorption	Very often (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Fat in feces	Often (30–79%)
Malnutrition	Often (30–79%)
Underdeveloped pancreas	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Pancreatic steatosis	Sometimes (5–29%)
Enlarged liver	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Eczema	Sometimes (5–29%)
Pneumonia	Sometimes (5–29%)
Recurrent bacterial infections	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Recurrent viral infections	Sometimes (5–29%)
Skin rash	Sometimes (5–29%)
Bone infection	Rarely (1–4%)
Decreased immune function	Rarely (1–4%)
Infection in blood stream	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Behavioral abnormality	Often (30–79%)
Global developmental delay	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
More active than typical	Rarely (1–4%)
Intellectual disability, mild	Not recorded
Specific learning disability	Not recorded

Laboratory abnormality

Trait	How often it is seen
Vitamin E deficiency	Always
Decreased circulating vitamin K concentration	Often (30–79%)
Deficient in vitamin D	Often (30–79%)
Hypoamylasemia	Often (30–79%)
Increased serum bile acid concentration	Often (30–79%)
Vitamin A deficiency	Often (30–79%)
Diabetes mellitus	Rarely (1–4%)
High liver enzymes	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Retinal dysplasia	Sometimes (5–29%)
Astigmatism	Not recorded
Close sighted	Not recorded
Farsightedness	Not recorded
Wide-set eyes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hyperkeratosis	Sometimes (5–29%)
Hypomelanotic macule	Sometimes (5–29%)
Ichthyosis	Rarely (1–4%)
Poor nail formation	Not recorded
Small nail	Not recorded
Sparse hair	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Small for gestational age	Not recorded

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Abnormality of the outer ear	Rarely (1–4%)
Hearing impairment	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
Myocardial necrosis	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Rarely (1–4%)
Hypopituitarism	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Not recorded
Undescended testes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded
Neonatal respiratory distress	Not recorded

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormality of the thoracic cavity	Sometimes (5–29%)

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 DNAJC21 and how often each is seen. Find out more at hpo.jax.org.

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