Traits

Traits linked to THOC2

THO complex subunit 2

The Human Phenotype Ontology links 77 traits to THOC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Delayed speech and language development	매우 자주 (80–99%)
Intellectual disability	매우 자주 (80–99%)
Abnormal cerebral white matter morphology	자주 (30–79%)
Abnormal gait	자주 (30–79%)
Behavioral abnormality	자주 (30–79%)
Intellectual disability, mild	자주 (30–79%)
IQ between 34 and 49	자주 (30–79%)
Tremor	자주 (30–79%)
Ventriculomegaly	자주 (30–79%)
Abnormality of neuronal migration	가끔 (5–29%)
Abnormality of the cerebellum	가끔 (5–29%)
Anxiety	가끔 (5–29%)
Autism spectrum disorder	가끔 (5–29%)
Cerebellar dysplasia	가끔 (5–29%)
Cerebellar vermis hypoplasia	가끔 (5–29%)
Depression	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Gliosis	가끔 (5–29%)
Grand mal seizures	가끔 (5–29%)
Hyperactive movements	가끔 (5–29%)
Intellectual disability, severe	가끔 (5–29%)
Repetitive movements	가끔 (5–29%)
Self-mutilation	가끔 (5–29%)

Trait	나타나는 빈도
Club feet	항상
Fixed elbow flexion	항상
Hand clenching	항상
Hip flexion contracture	항상
Knee extension contracture	항상
Rocker bottom foot	항상
Partial hip dislocation	가끔 (5–29%)
Single transverse palmar crease	가끔 (5–29%)

Trait	나타나는 빈도
Arthrogryposis multiplex congenita	항상
Increased variability in muscle fiber diameter	항상
Low muscle tone	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Involuntary muscle stiffness, contraction, or spasm	가끔 (5–29%)
Uncontrollable movement in upper arms	가끔 (5–29%)

Trait	나타나는 빈도
Fetal hydrothorax	항상
High levels of amniotic fluid	항상
Less than 10 fetal movements in 12 hours	항상
Short fetal thigh bone length	항상
Fetal ascites	자주 (30–79%)
Premature birth	가끔 (5–29%)

Trait	나타나는 빈도
Cross-eyed	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Outward facing eye ball	가끔 (5–29%)
Visual impairment	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Trait	나타나는 빈도
Large ears	가끔 (5–29%)
Sensorineural hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Poorly developed lungs	항상
Pulmonary scarring	가끔 (5–29%)

Trait	나타나는 빈도
Fetal skin edema	항상
Nonimmune hydrops fetalis	항상

Trait	나타나는 빈도
Heart attack	가끔 (5–29%)

Trait	나타나는 빈도
Feeding difficulties	가끔 (5–29%)

Trait	나타나는 빈도
Decreased response to growth hormone stimulation test	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

The Human Phenotype Ontology, release 2026-09-01: the traits linked to THOC2 and how often each is seen. Find out more at hpo.jax.org.

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