Traits

Traits linked to ASH1L

ASH1 like histone lysine methyltransferase

The Human Phenotype Ontology links 55 traits to ASH1L, 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
Abnormally small head	Always
Beaked nose	Always
Big calvaria	Always
Depressed nasal bridge	Always
Downturned corners of mouth	Always
High palate	Always
Monobrow	Always
Nasal tip, upturned	Always
Open mouth	Always
Prominent nasal bridge	Always
Prominent nose	Always
Short philtrum	Always
Long, narrow head	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Anxiety	Always
Delayed CNS myelination	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Obsessive-compulsive trait	Always
Pica	Always
Repetitive movements	Always
Autism spectrum disorder	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Irritability	Often (30–79%)
More active than typical	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Excessive daytime sleepiness	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Deeply set eye	Always
Horizontal nystagmus	Always
Wide-set eyes	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cervical C2/C3 vertebral fusion	Always
Low muscle tone in trunk	Always
Lumbar scoliosis	Always
Pigeon chest	Always
Low muscle tone	Often (30–79%)
Excessive inward curvature of lower spine	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Asymmetric ears	Always
Low-set ears	Always
Sensorineural hearing impairment	Always

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Undescended testes	Always

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Overweight	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Winged shoulder blade	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	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 ASH1L and how often each is seen. Find out more at hpo.jax.org.

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