Traits

Traits linked to DYM

dymeclin

The Human Phenotype Ontology links 116 traits to DYM, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Atlantoaxial instability	Always
Barrel-shaped chest	Always
Beaking of vertebral bodies	Always
Excessive inward curvature of lower spine	Always
Flaring of lower rib cage	Always
Flattened vertebrae	Always
Hunched back	Always
Iliac crest serration	Always
Limitation of joint mobility	Always
Prominent sternum	Always
Wide pubic symphysis	Always
Disproportionate short-trunked short stature	Very often (80–99%)
Pigeon chest	Very often (80–99%)
Shield chest	Very often (80–99%)
Spondyloepimetaphyseal dysplasia	Very often (80–99%)
Abnormal development of end part of bone	Often (30–79%)
Abnormal shape of pelvis bone	Often (30–79%)
Abnormal skeletal development	Often (30–79%)
Abnormality of the hip bone	Often (30–79%)
Abnormality of the vertebral column	Often (30–79%)
Abnormality of the vertebral endplates	Often (30–79%)
Broad ribs	Often (30–79%)
Horizontal inferior border of scapula	Often (30–79%)
Hypoplasia of the odontoid process	Often (30–79%)
Hypoplastic iliac wing	Often (30–79%)
Scoliosis	Often (30–79%)
Short long bone	Often (30–79%)
Shorter than typical length between neck and abdomen	Often (30–79%)
Small wings of the pelvic girdle	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Difficulty in standing	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Glenoid fossa hypoplasia	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)
Enlargement of the costochondral junction	Not recorded
Flat glenoid fossa	Not recorded
Irregular end part of long bone	Not recorded
Narrow greater sciatic notch	Not recorded
Permanent flexion of the finger or toe	Not recorded
Small shoulder blade	Not recorded
Thoracic kyphosis	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	Always
Disproportionately short upper portion of limb	Always
Irregular wide portion of a long bone	Always
Outward bow-leggedness	Always
Short fingers or toes	Always
Short long bone of foot	Always
Shortened long bone of hand	Always
Small carpal bones	Always
Knock knees	Very often (80–99%)
Rhizomelic arm shortening	Very often (80–99%)
Abnormal head of thigh bone	Often (30–79%)
Broad femoral neck	Often (30–79%)
Curvature of little finger	Often (30–79%)
Flat acetabular roof	Often (30–79%)
Hypoplastic acetabulae	Often (30–79%)
Limb muscle weakness	Often (30–79%)
Metaphyseal dysplasia	Often (30–79%)
Small innermost thighbone end part	Often (30–79%)
Abnormality of the ankle	Sometimes (5–29%)
Bowed shankbone	Sometimes (5–29%)
Bowed thighbone	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Coxa vara	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Limited elbow extension	Sometimes (5–29%)
Limited knee straightening	Sometimes (5–29%)
Prominent heel bone	Sometimes (5–29%)
Wide wrist bones	Sometimes (5–29%)
Broad foot	Not recorded
Broad palm	Not recorded
Cone-shaped end part of finger bones	Not recorded
Delayed maturation of the head of the thigh bone	Not recorded
Multicentric femoral head ossification	Not recorded
Multicentric ossification of proximal femoral epiphyses	Not recorded
Multicentric ossification of proximal humeral epiphyses	Not recorded
Short finger bones	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Short neck	Always
Abnormally small head	Often (30–79%)
Monobrow	Often (30–79%)
Smooth philtrum	Often (30–79%)
Thick eyebrow	Often (30–79%)
Thick oral frenulum	Often (30–79%)
Wide mouth	Often (30–79%)
Recurrent colds	Sometimes (5–29%)
Big lower jaw	Not recorded
Decreased size of facial bones	Not recorded
Deformed sella turcica	Not recorded
Increased thickness of skull cap	Not recorded
Long, narrow head	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Waddling gait	Always
Abnormal gait	Often (30–79%)
Absent speech development	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Motor delay	Often (30–79%)
Delayed speech and language development	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Poor concentration	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Severe global developmental delay	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Very often (80–99%)
Severe short stature	Often (30–79%)
Growth delay as children	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Often (30–79%)
Rectum protrudes through anus	Often (30–79%)
Belly sticks out	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fine hair	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	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 DYM and how often each is seen. Find out more at hpo.jax.org.

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