Traits

Traits linked to ASCC3

activating signal cointegrator 1 complex subunit 3

The Human Phenotype Ontology links 54 traits to ASCC3, 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
Big lower jaw	Often (30–79%)
Increased size of tooth	Often (30–79%)
Thick eyebrow	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Intellectual disability, mild	Always
Delayed ability to walk	Very often (80–99%)
Autism	Often (30–79%)
Delayed fine motor development	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Obsessive-compulsive trait	Often (30–79%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Central sleep apnea	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Back knee	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Irregular wide portion of a long bone	Sometimes (5–29%)
Short foot	Sometimes (5–29%)
Short outermost finger bone	Sometimes (5–29%)
Short toe	Sometimes (5–29%)
Slender finger	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular hypotonia	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Spastic paraplegia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 ASCC3 and how often each is seen. Find out more at hpo.jax.org.

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