Traits

Traits linked to BICD2

BICD cargo adaptor 2

The Human Phenotype Ontology links 82 traits to BICD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Decreased Achilles reflex	Always
Lower limb muscle weakness	Always
Proximal lower limb muscle weakness	Always
Decreased knee jerk reflex	Very often (80–99%)
Winged shoulder blade	Very often (80–99%)
Femur fracture	Often (30–79%)
Hand clenching	Often (30–79%)
Hip dislocation	Often (30–79%)
Hyporeflexia of lower limbs	Often (30–79%)
Inward turned thumb	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Ulnar deviation of the hand	Often (30–79%)
Abnormality of the Achilles tendon	Sometimes (5–29%)
Distal lower limb muscle weakness	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Hip contracture	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Hand muscle weakness	Rarely (1–4%)
Weak shoulder muscles	Rarely (1–4%)
Dislocated hip since birth	Not recorded
Overlapping fingers	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Multiple joint contractures	Always
Arthrogryposis multiplex congenita	Often (30–79%)
Congenital foot contraction deformities	Often (30–79%)
Distal lower limb amyotrophy	Often (30–79%)
Gowers sign	Often (30–79%)
Lower limb amyotrophy	Often (30–79%)
Prominent swayback	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Axial muscle weakness	Sometimes (5–29%)
Bulbar palsy	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Decreased lung function due to weak breathing muscles	Not recorded
Difficulty running	Not recorded
Lower limb spasticity	Not recorded
Muscle degeneration	Not recorded
Severely decreased muscle tone	Not recorded
Spinal muscle degeneration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Waddling gait	Always
Abnormal gait	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Extra-axial cerebrospinal fluid accumulation	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Motor delay	Often (30–79%)
Perisylvian polymicrogyria	Often (30–79%)
Small cerebellum	Often (30–79%)
Spina bifida occulta	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Wide based walk	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Absent reflexes	Not recorded
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Toe walking	Not recorded
Ventriculomegaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Little lower jaw	Often (30–79%)
Midface retrusion	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Central apnea	Often (30–79%)
Respiratory failure	Often (30–79%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Subdural hemorrhage	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Postexertional symptom exacerbation	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 BICD2 and how often each is seen. Find out more at hpo.jax.org.

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