Trait

Pseudobulbar signs

Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.

HPO HP:0002200

Also called: Pseudobulbar symptoms
Body system: Abnormality of the nervous system

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11 genes linked to Pseudobulbar signs

Changes in these genes cause rare conditions in which Pseudobulbar signs is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
HTRA1HtrA serine peptidase 1	Always	In 1 condition
NOTCH3notch receptor 3	Always	In 1 condition
TMEM63Btransmembrane protein 63B	Always	In 1 condition
FBLN1fibulin 1	Often (30–79%)	In 1 condition
SPG7SPG7 matrix AAA peptidase subunit, paraplegin	Often (30–79%)	In 1 condition
DNMT1DNA methyltransferase 1	Sometimes (5–29%)	In 1 condition
GM2Aganglioside GM2 activator	Sometimes (5–29%)	In 1 condition
LMNB1lamin B1	Sometimes (5–29%)	In 1 condition
ADSS1adenylosuccinate synthase 1	Rarely (1–4%)	In 1 condition
ASPAaspartoacylase	Rarely (1–4%)	In 1 condition
AP4M1adaptor related protein complex 4 subunit mu 1	Not recorded	In 1 condition

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.

Narrower traits

Broader traits

Abnormal nervous system physiology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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