Traits

Traits linked to SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

The Human Phenotype Ontology links 59 traits to SNRPB, by body system: features seen in people with one of the gene's rare conditions.

SNRPB

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Pierre-Robin sequence	Very often (80–99%)
High palate	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Cleft lip	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Short hard palate	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Cleft soft palate	Not recorded
Eye folds	Not recorded
Long philtrum	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bell-shaped thorax	Very often (80–99%)
Posterior rib gap	Very often (80–99%)
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
10 pairs of ribs	Sometimes (5–29%)
11 pairs of ribs	Sometimes (5–29%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Anomalous rib insertion to vertebrae	Not recorded
Calcaneal epiphyseal stippling	Not recorded
Rib gap	Not recorded
Small chest	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Cavity within brain	Sometimes (5–29%)
Hydranencephaly	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)
Myelomeningocele	Sometimes (5–29%)
Split spine	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Dislocated hip since birth	Not recorded
Elbow flexion contracture	Not recorded
Short humerus	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Anteriorly placed anus	Sometimes (5–29%)
Narrowing of anal opening	Sometimes (5–29%)
Acid reflux	Not recorded

Abnormality of the ear

Trait	How often it is seen
Absent ear canal	Often (30–79%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Multicystic kidney dysplasia	Sometimes (5–29%)
Abnormal kidney location	Not recorded
Cystic kidney disease	Not recorded
Horseshoe kidney	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Very often (80–99%)
Floppy windpipe	Often (30–79%)
Anomalous tracheal cartilage	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)
Growth delay as children	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 SNRPB and how often each is seen. Find out more at hpo.jax.org.

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