Traits

Traits linked to HYCC1

hyccin PI4KA lipid kinase complex subunit 1

The Human Phenotype Ontology links 28 traits to HYCC1, 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
Babinski sign	Always
CNS hypomyelination	Always
Difficulty articulating speech	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability	Always
Onion bulb formation	Always
Abnormal pyramidal sign	Very often (80–99%)
Abnormality of the cerebellum	Very often (80–99%)
Cerebral hypomyelination	Very often (80–99%)
Decreased motor nerve conduction velocity	Very often (80–99%)
Intention tremor	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Peripheral nerve disease	Very often (80–99%)
Truncal titubation	Very often (80–99%)
Delayed ability to walk	Often (30–79%)
Delayed brainstem auditory evoked response conduction time	Often (30–79%)
Delayed somatosensory central conduction time	Often (30–79%)
Epilepsy	Often (30–79%)
Loss of ability to walk	Often (30–79%)
Cerebral white matter atrophy	Not recorded
Leukodystrophy	Not recorded
Motor delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Lower limb amyotrophy	Very often (80–99%)
Scoliosis	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Always

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 HYCC1 and how often each is seen. Find out more at hpo.jax.org.

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