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	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Underdevelopment of part of brain called corpus callosum	Întotdeauna
Perisylvian polymicrogyria	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Babinski sign	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Lack of coordination of movement	Des (30–79%)
Sensory axonal neuropathy	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Communication delay	Uneori (5–29%)
Instability or lack of coordination of central trunk muscles	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Increased reflexes	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Întotdeauna
Conjunctival hyperemia	Des (30–79%)
Drooling	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Attachment of thumb close to wrist	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Complete duplication of thumb bones	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Scoliosis	Des (30–79%)
Spastic walk	Des (30–79%)
Scissor gait	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Enlarged and thickened heart muscle	Foarte des (80–99%)
Secundum atrial septal defect	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Slow eye movements	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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