Traits

Traits linked to DPH2

diphthamide biosynthesis 2

The Human Phenotype Ontology links 51 traits to DPH2, 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
Notched front baby tooth	Always
Prominent forehead	Always
Sparse scalp hair	Always
Abnormal facial shape	Very often (80–99%)
Sparse eyebrow	Very often (80–99%)
Abnormally small head	Often (30–79%)
Big calvaria	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High frontal hairline	Often (30–79%)
Posterior fossa cyst	Often (30–79%)
Triangular head shape	Often (30–79%)
Broad head shape	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Early closure of midline skull joint	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Relatively large head	Sometimes (5–29%)
Scaphocephaly	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Global developmental delay	Always
Cerebellar vermis hypoplasia	Often (30–79%)
Delayed fine motor development	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
Inward turned thumb	Often (30–79%)
Short fingers or toes	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Small hand	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Hydrocele testis	Often (30–79%)
Enuresis	Sometimes (5–29%)
Tubulointerstitial nephritis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Muscular ventricular septal defect	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Narrowing of aortic valve	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Mild hearing impairment	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Underdeveloped toenails	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Permanent flexion of the finger or toe	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 DPH2 and how often each is seen. Find out more at hpo.jax.org.

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