Traits

Traits linked to SHMT2

serine hydroxymethyltransferase 2

The Human Phenotype Ontology links 38 traits to SHMT2, 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
Delayed ability to walk	Always
Underdevelopment of part of brain called corpus callosum	Always
Perisylvian polymicrogyria	Very often (80–99%)
Attention deficit	Often (30–79%)
Babinski sign	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Sensory axonal neuropathy	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Communication delay	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Increased reflexes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Conjunctival hyperemia	Often (30–79%)
Drooling	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Attachment of thumb close to wrist	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Complete duplication of thumb bones	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	Often (30–79%)
Spastic walk	Often (30–79%)
Scissor gait	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)
Secundum atrial septal defect	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Slow eye movements	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always

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 SHMT2 and how often each is seen. Find out more at hpo.jax.org.

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