Traits

Traits linked to SRPX2

sushi repeat containing protein X-linked 2

The Human Phenotype Ontology links 77 traits to SRPX2, 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
Abnormality of neuronal migration	Very often (80–99%)
Bilateral perisylvian polymicrogyria	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
EEG with centrotemporal focal spike waves	Very often (80–99%)
Epilepsy	Very often (80–99%)
Speech apraxia	Very often (80–99%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Continuous spike and waves during slow sleep	Often (30–79%)
EEG with central focal spikes	Often (30–79%)
EEG with focal sharp waves	Often (30–79%)
EEG with generalized epileptiform discharges	Often (30–79%)
EEG with parietal focal spikes	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Focal hemifacial clonic seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability	Often (30–79%)
Language impairment	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Perisylvian predominant thick cortex pachygyria	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Specific learning disability	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Abnormal prosody	Sometimes (5–29%)
Abnormally low-pitched voice	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Cerebellar dysplasia	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Dysesthesia	Sometimes (5–29%)
EEG with frontal focal spikes	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Focal sensory seizure	Sometimes (5–29%)
Incomprehensible speech	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Intellectual disability, borderline	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Oromotor apraxia	Sometimes (5–29%)
Partial paralysis of legs	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Atypical absence seizure	Rarely (1–4%)
EEG with irregular generalized spike and wave complexes	Rarely (1–4%)
Intellectual disability, mild	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Drooling	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Abnormality of masticatory muscle	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Distal arthrogryposis	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the respiratory system

Trait	How often it is seen
Laryngospasm	Often (30–79%)
Apnea	Sometimes (5–29%)
Aspiration	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Ectopic posterior pituitary	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 SRPX2 and how often each is seen. Find out more at hpo.jax.org.

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