Traits

Traits linked to ANKRD17

ankyrin repeat domain 17

The Human Phenotype Ontology links 34 traits to ANKRD17, 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
Almond shaped eyes	Often (30–79%)
Flared nostrils	Often (30–79%)
Thick nasal alae	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Triangular face	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Pierre-Robin sequence	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Cleft lip	Rarely (1–4%)
Cleft palate	Rarely (1–4%)
Short philtrum	Rarely (1–4%)
Smooth philtrum	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
EEG abnormality	Often (30–79%)
Motor delay	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)

Abnormality of the immune system

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

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 ANKRD17 and how often each is seen. Find out more at hpo.jax.org.

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