Traits

Traits linked to RBM8A

RNA binding motif protein 8A

The Human Phenotype Ontology links 91 traits to RBM8A, by body system: features seen in people with one of the gene's rare conditions.

RBM8A

Abnormality of limbs

Trait	How often it is seen
Bilateral radial aplasia	Always
Curving of inner forearm bone	Always
Inward turned thumb	Always
Radial deviation of the hand	Always
Short forearm	Always
Ulnar deviation of the hand	Always
Missing outer large bone of forearm	Very often (80–99%)
Short thumb	Very often (80–99%)
Absence/underdevelopment of inner forearm bone	Often (30–79%)
Absent kneecap	Often (30–79%)
Absent/small kneecap	Often (30–79%)
Absent/small long bone in upper arm	Often (30–79%)
Broad thumb	Often (30–79%)
Coxa valga	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dislocated kneecap	Often (30–79%)
Hip dislocation	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Tibial torsion	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Absent calf bone	Sometimes (5–29%)
Bowed thighbone	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Phocomelia	Sometimes (5–29%)
Short finger bones	Sometimes (5–29%)
Small carpal bones	Sometimes (5–29%)
Underdeveloped inner large forearm bone	Sometimes (5–29%)
Edema of the dorsum of feet	Rarely (1–4%)
Fused wrist bones	Not recorded
Underdeveloped shoulder muscle	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Cavum septum pellucidum	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Rarely (1–4%)
Intellectual disability	Rarely (1–4%)
Epilepsy	Not recorded
Motor delay	Not recorded
Split spine	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal rotation of the kidneys	Always
Vesicoureteral reflux	Always
Abnormality of the genitourinary system	Sometimes (5–29%)
Abnormality of the kidney	Sometimes (5–29%)
Absent uterus	Sometimes (5–29%)
Axial malrotation of the kidney	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Dilatation of the renal pelvis	Rarely (1–4%)
Double ureter	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Often (30–79%)
High forehead	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Facial capillary hemangioma	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Broad head shape	Not recorded
Nasal tip, upturned	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of aorta	Always
Abnormal cardiac septum morphology	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)
Hole in center of heart	Rarely (1–4%)
Patent ductus arteriosus	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Prolonged bleeding following circumcision	Always
Abnormality of coagulation	Very often (80–99%)
Low platelet count	Very often (80–99%)
Elevated white blood count	Often (30–79%)
High blood eosinophil count	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the shoulder	Sometimes (5–29%)
Cervical ribs	Sometimes (5–29%)
Fused neck	Sometimes (5–29%)
Hook-shaped collarbone	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Corneal opacity	Always
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Meckel diverticulum	Not recorded
Pancreatic cysts	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Cow milk allergy	Often (30–79%)
Seborrheic dermatitis	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Not recorded

Abnormality of the integument

Trait	How often it is seen
Port-wine stain on forehead	Sometimes (5–29%)

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Edema of the dorsum of hands	Rarely (1–4%)

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 RBM8A and how often each is seen. Find out more at hpo.jax.org.

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