Traits

Traits linked to TAPT1

transmembrane anterior posterior transformation 1

The Human Phenotype Ontology links 48 traits to TAPT1, by body system: features seen in people with one of the gene's rare conditions.

TAPT1

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Not recorded
Broad head shape	Not recorded
Cleft palate	Not recorded
Corners of eye widely separated	Not recorded
Decreased bone formation of skull	Not recorded
Extra bones within cranial sutures	Not recorded
Flat face	Not recorded
Little lower jaw	Not recorded
Nasal tip, upturned	Not recorded
One sided cleft upper lip	Not recorded
Prominent forehead	Not recorded
Short neck	Not recorded
Short nose	Not recorded
Webbed neck	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Multiple rib fractures	Always
Flattened vertebrae	Not recorded
Flexed joint that cannot be straightened	Not recorded
Multiple fractures present at birth	Not recorded
Osteopenia	Not recorded
Short ribs	Not recorded
Small chest	Not recorded

Abnormality of limbs

Trait	How often it is seen
Decreased fibular diameter	Not recorded
Flared wide portion of long bone	Not recorded
Fractured radius	Not recorded
Inward turned thumb	Not recorded
Limb undergrowth	Not recorded
Short thighbone	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Not recorded
Enlarged heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Not recorded
Large fleshy ears	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Not recorded
Hypospadias	Not recorded
Short penis	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Not recorded
Only one artery in umbilical cord instead of two	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Small cerebellum	Not recorded
Ventriculomegaly	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Not recorded
Small for gestational age	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid around lungs	Not recorded
Hydrops fetalis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Not recorded

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 TAPT1 and how often each is seen. Find out more at hpo.jax.org.

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