Traits

Traits linked to PTBP1

polypyrimidine tract binding protein 1

The Human Phenotype Ontology links 145 traits to PTBP1, by body system: features seen in people with one of the gene's rare conditions.

PTBP1

Abnormality of head or neck

Trait	How often it is seen
Absence of premolar	Always
Amelogenesis imperfecta	Always
Cleft palate	Always
Decreased size of tooth	Always
Dental crowding	Always
Enlarged cisterna magna	Always
Extra teeth	Always
Failure of development of between one and six teeth	Always
Long, narrow head	Always
Prominent metopic ridge	Always
Yellow-brown discoloration of the teeth	Always
Broad forehead	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Oval face	Often (30–79%)
Thin eyebrow	Often (30–79%)
Frontal bossing	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Tented philtrum	Sometimes (5–29%)
Both sided cleft lip	Rarely (1–4%)
Flat face	Rarely (1–4%)
High forehead	Rarely (1–4%)
Hooded eyelid	Rarely (1–4%)
Little lower jaw	Rarely (1–4%)
Long philtrum	Rarely (1–4%)
Prominent nose	Rarely (1–4%)
Round face	Rarely (1–4%)
Short neck	Rarely (1–4%)
Thick eyebrow	Rarely (1–4%)
Triangular face	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	Always
Disproportionately short middle portion of limb	Always
Disproportionately short upper portion of limb	Always
Overlapping toe	Always
Short fingers or toes	Always
Short humerus	Always
Short outermost finger bone	Always
Short thighbone	Always
Shortened long bone of hand	Always
Small hand	Always
Outward turned elbows	Sometimes (5–29%)
Short middle bone of finger	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Acromesomelia	Rarely (1–4%)
Cortical thickening of long bone diaphyses	Rarely (1–4%)
Dropped arches	Rarely (1–4%)
Rhizomelic arm shortening	Rarely (1–4%)
Short lower limbs	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar dysplasia	Always
CNS demyelination	Always
Delayed CNS myelination	Always
Delayed speech and language development	Always
Global developmental delay	Always
Inferior cerebellar vermis hypoplasia	Always
Mild global developmental delay	Always
Motor delay	Always
Small cerebellum	Always
Snoring	Always
Thin corpus callosum	Always
Ventriculomegaly	Always
Autism spectrum disorder	Often (30–79%)
Intellectual disability	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Septo-optic dysplasia	Always
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Developmental glaucoma	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Abnormally small eyeball on both sides	Rarely (1–4%)
Clouding of the lens of the eye	Rarely (1–4%)
Cross-eyed	Rarely (1–4%)
Dropping of one upper eyelid	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)
Lazy eye	Rarely (1–4%)
Papilledema	Rarely (1–4%)
Retinal detachment	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Cone-shaped end part of bone	Always
Osteoporosis	Always
Scoliosis	Always
Short long bone	Always
Low muscle tone in trunk	Often (30–79%)
Severely decreased muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Hunched back	Rarely (1–4%)
Joint stiffness	Rarely (1–4%)
Permanent flexion of the finger or toe	Rarely (1–4%)
Small chest	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Aortic regurgitation	Always
Bulging of wall of large artery located above heart	Always
Cutis marmorata	Always
Hepatic hemangioma	Always
Mitral regurgitation	Always
Narrowing of lung artery	Always
Patent ductus arteriosus	Always
Pulmonary artery atresia	Always
Tetralogy of Fallot	Always
Tricuspid regurgitation	Always
Ventricular hypertrophy	Always

Abnormality of the integument

Trait	How often it is seen
Aplasia cutis congenita over the scalp vertex	Always
Curly hair	Always
Dry hair	Always
Hanging skin	Always
Increased number of skin folds	Always
Patchy darkened skin	Always
Short nail	Always
Small nail	Always
Spinal dimple	Always
Thin nail	Always
Underdeveloped toenails	Always

Growth abnormality

Trait	How often it is seen
Disproportionate short stature	Always
Disproportionate short-limb short stature	Always
Disproportionate tall stature	Always
Faltering weight	Always
Obesity	Always
Proportionate short stature	Always

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating insulin-like growth factor 1 concentration	Always
Ectopic anterior pituitary gland	Always
Hypopituitarism	Always
Reduced circulating growth hormone concentration	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Pyloric stenosis	Always
Umbilical hernia	Always

Abnormality of the ear

Trait	How often it is seen
Mixed hearing impairment	Always
Low-set ears	Often (30–79%)
Small ears	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Always
Hypospadias	Always
Enuresis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Always
Psoriasiform dermatitis	Always

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Always
Low blood sugar	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal little finger curvature	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Floppy windpipe	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 PTBP1 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