Traits

Traits linked to DPH5

diphthamide biosynthesis 5

The Human Phenotype Ontology links 47 traits to DPH5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Very often (80–99%)
Sparse eyebrow	Very often (80–99%)
Broad forehead	Often (30–79%)
Broad opening between the eyelids	Often (30–79%)
Dental cavities	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Midface retrusion	Often (30–79%)
Narrow forehead	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Enlarged cisterna magna	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Increased size of gum ridge	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Sparse eyelashes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Global developmental delay	Always
IQ less than 20	Always
Cerebral palsy	Often (30–79%)
Grand mal seizures	Often (30–79%)
Brain degeneration	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Motor regression	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Tapered finger	Always
Dropped arches	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Multiple muscular ventricular septal defects	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Appendicular spasticity	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Acid reflux	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Severe near sightedness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)

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 DPH5 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test