Traits

Traits linked to ZNF148

zinc finger protein 148

The Human Phenotype Ontology links 41 traits to ZNF148, by body system: features seen in people with one of the gene's rare conditions.

ZNF148

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Abnormally small head	Often (30–79%)
Frontal bossing	Often (30–79%)
Pointed chin	Often (30–79%)
Triangular face	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Coarse facial features	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Global developmental delay	Always
Agenesis of corpus callosum	Often (30–79%)
Colpocephaly	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
EEG with burst suppression	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Mitral stenosis	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Dropped arches	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Often (30–79%)
Renal dysplasia	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Sometimes (5–29%)

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

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 ZNF148 and how often each is seen. Find out more at hpo.jax.org.

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