Traits

Traits linked to CLP1

cleavage factor polyribonucleotide kinase subunit 1

The Human Phenotype Ontology links 60 traits to CLP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Increased reflexes	Always
Reduced cerebral white matter volume	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Delayed fine motor development	Very often (80–99%)
Delayed motor skills	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Abnormal cerebral cortex morphology	Often (30–79%)
Absent speech development	Often (30–79%)
Epilepsy	Often (30–79%)
Fluid-filled cyst in spinal cord	Often (30–79%)
Intellectual disability	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Abnormal shape of brainstem	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Delayed myelination	Not recorded
Encephalopathy	Not recorded
Poor eye contact	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Enlarged cisterna magna	Always
Highly arched eyebrow	Always
Low hanging columella	Always
Underdeveloped tissue around nostril	Always
Wide nasal bridge	Always
Broad opening between the eyelids	Often (30–79%)
Bulbous nose	Often (30–79%)
Long eyelashes	Often (30–79%)
Monobrow	Often (30–79%)
Narrow forehead	Often (30–79%)
Short neck	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Abnormally small head	Not recorded
High palate	Not recorded
Progressively abnormally small cranium	Not recorded
Short nose	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Bulging eye	Often (30–79%)
Cerebral visual impairment	Often (30–79%)
Farsightedness	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Visual fixation instability	Sometimes (5–29%)
Optic atrophy	Rarely (1–4%)
Visual impairment	Rarely (1–4%)
Inward turning cross eyed	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Kyphoscoliosis	Always
Low muscle tone in trunk	Always
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Poor head control	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Always
Feeding difficulties	Always
Acid reflux	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always
Tapered finger	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)

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 CLP1 and how often each is seen. Find out more at hpo.jax.org.

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