Traits

Traits linked to RMRP

RNA component of mitochondrial RNA processing endoribonuclease

The Human Phenotype Ontology links 165 traits to RMRP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Cone-shaped end part of finger bones	Always
Delayed maturation of wrist bone	Always
Disproportionately short upper portion of limb	Always
Elbow flexion contracture	Always
Flared wide portion of long bone	Always
Irregular wide portion of a long bone	Always
Metaphyseal dysplasia	Always
Metaphyseal striations	Always
Short foot	Always
Short palm	Always
Shortened long bone of hand	Always
Abnormal shape of shaft of long bone	Very often (80–99%)
Abnormality of the outermost finger bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Bowed shankbone	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Disproportionately short middle portion of limb	Very often (80–99%)
Limited elbow extension	Very often (80–99%)
Metaphyseal chondrodysplasia	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Thickening of shaft or central part of long bones	Very often (80–99%)
Coxa vara	Often (30–79%)
Hip contracture	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Short toe	Sometimes (5–29%)
Small hand	Sometimes (5–29%)
Bowed thighbone	Not recorded
Broad wide portion of long bone	Not recorded
Cupping of wide portion of long bone of hand	Not recorded
Metaphyseal cupping	Not recorded
Short finger	Not recorded
Short fingers or toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Barrel-shaped chest	Always
Excessive inward curvature of lower spine	Always
Thoracic kyphosis	Always
Abnormal bone maturation	Very often (80–99%)
Abnormal bone maturation of vertebra	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Biconvex vertebral bodies	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Prominent swayback	Very often (80–99%)
Scoliosis	Very often (80–99%)
Abnormality of the hip bone	Often (30–79%)
Atlantoaxial dislocation	Often (30–79%)
Flaring of lower rib cage	Often (30–79%)
Flattened vertebrae	Often (30–79%)
Narrow chest	Often (30–79%)
Prominent sternum	Often (30–79%)
Abnormal shape of pelvic girdle bone	Sometimes (5–29%)
Abnormality of the ribs	Sometimes (5–29%)
Advanced bone age	Sometimes (5–29%)
Asymmetric chest	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Hypoplasia of the odontoid process	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Shorter than typical length between neck and abdomen	Sometimes (5–29%)
Cervical subluxation	Not recorded
Narrow vertebral interpedicular distance	Not recorded
Short long bone	Not recorded
Small end part of bone	Not recorded
Small wings of the pelvic girdle	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally large tongue	Always
Decreased size of tooth	Always
Beaked nose	Very often (80–99%)
Large face	Very often (80–99%)
Short neck	Very often (80–99%)
Sparse eyebrow	Very often (80–99%)
Abnormality of the palate	Often (30–79%)
Big lower jaw	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Gum enlargement	Often (30–79%)
J-shaped sella turcica	Often (30–79%)
Pointed chin	Often (30–79%)
Prominent forehead	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Broad head shape	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Failure of development of between one and six teeth	Not recorded
Sparse eyelashes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fair hair	Very often (80–99%)
Hair loss	Very often (80–99%)
Sparse hair	Very often (80–99%)
Dry skin	Often (30–79%)
Itching	Often (30–79%)
Thickened skin	Often (30–79%)
Spinal dimple	Sometimes (5–29%)
Basal cell carcinoma	Rarely (1–4%)
Fine hair	Not recorded
Sparse facial hair	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal lymphocyte morphology	Very often (80–99%)
Low blood neutrophil count	Very often (80–99%)
Elevated white blood count	Often (30–79%)
High blood eosinophil count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Cancer of lymphatic system	Sometimes (5–29%)
Congenital hypoplastic anemia	Not recorded
Decreased blood lymphocyte number	Not recorded
Macrocytic anemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the pancreas	Very often (80–99%)
Chronic diarrhea	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Malabsorption	Often (30–79%)
Absent/small abdominal wall muscles	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Constipation	Rarely (1–4%)
Narrowing of anal opening	Rarely (1–4%)
Birth defect in which part of esophagus did not develop	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Very often (80–99%)
Blue outer white part of eyeball	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Severe farsightedness	Very often (80–99%)
Visual impairment	Very often (80–99%)
Close sighted	Often (30–79%)
Absent/small eye	Sometimes (5–29%)
Wide-set eyes	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Pneumonia	Often (30–79%)
Recurrent infections	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Cellular immunodeficiency	Not recorded
Susceptibility to chickenpox	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
EEG abnormality	Very often (80–99%)
Spinal dysraphism	Very often (80–99%)
Cervical cord compression	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Cognitive impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Disproportionate short-limb short stature	Very often (80–99%)
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Severe short stature	Often (30–79%)
Absent pubertal growth spurt	Not recorded
Neonatal short-limb short stature	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of aortic valve	Always
Abnormal cardiac septum morphology	Very often (80–99%)
Disease of the heart muscle	Very often (80–99%)
Swollen lymph nodes	Very often (80–99%)
Increased spleen size	Often (30–79%)
Heart block	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low blood calcium levels	Very often (80–99%)
Fever	Often (30–79%)
Fluid retention	Often (30–79%)
Mucopolysacchariduria	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of chromosome stability	Sometimes (5–29%)
Decreased circulating antibody level	Sometimes (5–29%)
Impaired phytohemagglutinin-induced T lymphocyte transformation	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Desquamation of skin soon after birth	Often (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Very often (80–99%)
Respiratory function loss	Very often (80–99%)

Abnormality of the genitourinary system

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

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

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