Traits

Traits linked to CKAP2L

cytoskeleton associated protein 2L

The Human Phenotype Ontology links 59 traits to CKAP2L, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Underdeveloped tissue around nostril	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Wide nose	Very often (80–99%)
Broad columella	Often (30–79%)
Broad forehead	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Frontal bossing	Often (30–79%)
Prominent forehead	Often (30–79%)
Short philtrum	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Abnormality of dental shape	Not recorded
Decreased size of tooth	Not recorded
Hairy forehead	Not recorded
Low hanging columella	Not recorded
Serrated incisors	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Difficulty finding words	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Inability to speak	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Leg paralysis	Often (30–79%)
Limb dystonia	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Degeneration of cerebellum	Not recorded
Dystonia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Bilateral single transverse palmar creases	Often (30–79%)
Clinodactyly of the 5th toe	Often (30–79%)
Finger syndactyly	Sometimes (5–29%)
Curvature of finger	Not recorded
Cutaneous syndactyly	Not recorded
Single transverse palmar crease	Not recorded
Webbed 2nd-4th toes	Not recorded

Growth abnormality

Trait	How often it is seen
Severe short stature	Very often (80–99%)
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)
Decreased body weight	Not recorded
Growth delay as children	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Large end part of bone	Often (30–79%)
Limitation of joint mobility	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Absent/small toenails	Often (30–79%)
Small nail	Often (30–79%)
Excessive hair growth	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Bulging eye	Not recorded
Visual impairment	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Very often (80–99%)
Ambiguous external genitalia	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	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 CKAP2L and how often each is seen. Find out more at hpo.jax.org.

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