Traits

Traits linked to GALC

galactosylceramidase

The Human Phenotype Ontology links 129 traits to GALC, 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
Inappropriate crying	Very often (80–99%)
Irritability	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Upper motor neuron dysfunction	Very often (80–99%)
Worsening neurological symptoms	Very often (80–99%)
Abnormal CNS myelination	Often (30–79%)
Abnormal corpus callosum morphology	Often (30–79%)
Abnormal gait	Often (30–79%)
Abnormal periventricular white matter morphology	Often (30–79%)
Abnormal pons morphology	Often (30–79%)
Abnormal shape of midbrain	Often (30–79%)
Ataxia	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Clumsiness	Often (30–79%)
CNS demyelination	Often (30–79%)
Decreased nerve conduction velocity	Often (30–79%)
Delayed brainstem auditory evoked response conduction time	Often (30–79%)
EEG with persistent abnormal rhythmic activity	Often (30–79%)
Elevated brain choline level by MRS	Often (30–79%)
Hoffmann sign	Often (30–79%)
Hyperactive deep tendon reflexes	Often (30–79%)
Loss of ability to walk	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Loss of speech	Often (30–79%)
Motor delay	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Psychomotor deterioration	Often (30–79%)
Reduced brain glutamate level by MRS	Often (30–79%)
Reduced brain N-acetyl aspartate level by MRS	Often (30–79%)
Abnormal medulla oblongata morphology	Sometimes (5–29%)
Abnormal pyramidal tract morphology	Sometimes (5–29%)
Acroparesthesia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Encephalopathy	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Hyperesthesia	Sometimes (5–29%)
Hypointensity of cerebral white matter on MRI	Sometimes (5–29%)
Impaired touch sensation	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Paralysis of all four limbs	Sometimes (5–29%)
Paralysis on one side of body	Sometimes (5–29%)
Peripheral demyelination	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Slurred speech	Sometimes (5–29%)
Somatic sensory dysfunction	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Abnormal corticospinal tract morphology	Rarely (1–4%)
Tetraparesis	Rarely (1–4%)
Wide based walk	Rarely (1–4%)
Ongoing loss of nerve cells	Not recorded
Progressive degeneration of movement	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Progressive spasticity	Always
Functional motor deficit	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Frequent falls	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Muscle degeneration	Often (30–79%)
Progressive spastic paraparesis	Often (30–79%)
Spastic diplegia	Often (30–79%)
Spastic paraparesis	Often (30–79%)
Decerebrate rigidity	Sometimes (5–29%)
Decorticate rigidity	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Muscle stiffness	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Neck muscle weakness	Rarely (1–4%)
Low muscle tone	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of visual evoked potentials	Very often (80–99%)
Inward turning cross eyed	Often (30–79%)
Visual loss	Often (30–79%)
Blindness	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Slow pupillary light response	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Abnormal flash visual evoked potentials	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded

Laboratory abnormality

Trait	How often it is seen
Reduced tissue galactocerebrosidase activity	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Hyperpyrexia	Very often (80–99%)
Increased CSF protein concentration	Very often (80–99%)
Unexplained fevers	Very often (80–99%)
Temperature instability	Sometimes (5–29%)
Episodic fever	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hand clenching	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Decreased arm strength	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)
Weak shoulder muscles	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Nasogastric tube feeding in infancy	Sometimes (5–29%)
Neuromuscular dysphagia	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Decreased head circumference	Sometimes (5–29%)
Increased head circumference	Sometimes (5–29%)
Cherry red spot of the macula	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Softening of voice box tissue	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Wasting syndrome	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal erection	Rarely (1–4%)
Loss of bladder control	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune thrombocytopenia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate variability	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Patchy loss of skin color	Rarely (1–4%)

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

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