Traits

Traits linked to KATNIP

katanin interacting protein

The Human Phenotype Ontology links 48 traits to KATNIP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Cleft lip	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Long face	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Frontal bossing	Not recorded
Recurrent colds	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Global developmental delay	Always
Ataxia	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Central hypothyroidism	Not recorded
Decreased response to growth hormone stimulation test	Not recorded
Panhypopituitarism	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

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

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