Traits

Traits linked to CLTC

clathrin heavy chain

The Human Phenotype Ontology links 77 traits to CLTC, 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
Intellectual disability	Always
Encephalopathy	Very often (80–99%)
Abnormality of coordination	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed speech and language development	Often (30–79%)
EEG with multifocal slow activity	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal myelination	Sometimes (5–29%)
Absent speech development	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Decreased muscle movement	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Mental slowness	Sometimes (5–29%)
Oromotor apraxia	Sometimes (5–29%)
Partial paralysis of legs	Sometimes (5–29%)
Pontocerebellar atrophy	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Repeated seizures without recovery between them	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Decreased facial expressions	Sometimes (5–29%)
Development of small head that was not present at birth	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Not recorded
Long philtrum	Not recorded
Open mouth	Not recorded
Thin red part of the upper lip	Not recorded
Upward slanting of the opening between the eyelids	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Abnormality of vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)
Prominent ear	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	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 CLTC and how often each is seen. Find out more at hpo.jax.org.

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