Traits

Traits linked to ALKBH8

alkB homolog 8, tRNA methyltransferase

The Human Phenotype Ontology links 17 traits to ALKBH8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Epilepsy	Very often (80–99%)
Arachnoid granulation	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)
Deep bite	Sometimes (5–29%)
Long face	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)
Increased size of eyes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Prune belly	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	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 ALKBH8 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test