Traits

Traits linked to SIK1

salt inducible kinase 1

The Human Phenotype Ontology links 69 traits to SIK1, by body system: features seen in people with one of the gene's rare conditions.

SIK1

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Epilepsy	Always
Global developmental delay	Always
Repetitive movements	Always
Epileptic encephalopathy	Very often (80–99%)
Focal motor seizure	Very often (80–99%)
Generalized myoclonic seizure	Very often (80–99%)
Hypsarrhythmia	Very often (80–99%)
Infantile spasms	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Jerking	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Abnormality of the nervous system	Often (30–79%)
Difficulty sleeping	Often (30–79%)
EEG abnormality	Often (30–79%)
EEG with burst suppression	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Increased reflexes	Often (30–79%)
Lethargy	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Diffuse white matter abnormalities	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
EEG with spike-wave complexes	Sometimes (5–29%)
Episodic ataxia	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Generalized clonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Sometimes (5–29%)
Dystonia	Rarely (1–4%)
Encephalopathy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Rarely (1–4%)
Cleft palate	Rarely (1–4%)
Depressed nasal bridge	Rarely (1–4%)
Nasal tip, upturned	Rarely (1–4%)
Sloping forehead	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Poor suck	Often (30–79%)
Poor swallowing	Often (30–79%)
Umbilical hernia	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Broad finger	Rarely (1–4%)
Short finger	Rarely (1–4%)
Wide toe bones	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal dysplasia	Rarely (1–4%)
Short penis	Rarely (1–4%)
Ureterocele	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Poor head control	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin structure	Often (30–79%)
Absent thumbnail	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 SIK1 and how often each is seen. Find out more at hpo.jax.org.

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