Intellectual disability with strabismus syndrome

disorder

SNOMED 773405004CUI C4750838

Overview

Intellectual disability with strabismus syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Esotropia

Very frequent (80-99%)HP:0000565

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Squint

Very frequent (80-99%)HP:0000486

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Bulging forehead

Frequent (30-79%)HP:0011220

Cognitive delay

Frequent (30-79%)HP:0001263

Concave bridge of nose

Frequent (30-79%)HP:0005280

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Hypotonia, early

Frequent (30-79%)HP:0008947

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mongoloid slant

Frequent (30-79%)HP:0000582

Palpebronasal fold

Frequent (30-79%)HP:0000286

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Speech delay

Frequent (30-79%)HP:0000750

Achilles tendon contracture

Occasional (5-29%)HP:0001771

Atria septal defect

Occasional (5-29%)HP:0001631

Brain degeneration

Occasional (5-29%)HP:0012444

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Decreased serum insulin-like growth factor 1

Occasional (5-29%)HP:0030353

Decreased sweating

Occasional (5-29%)HP:0000966

Decreased width of nasal dorsum

Occasional (5-29%)HP:0000418

Delayed CNS myelination

Occasional (5-29%)HP:0002188

Delayed myelination

Occasional (5-29%)HP:0012448

Diffuse demyelination of the cerebral white matter

Occasional (5-29%)HP:0007162

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Flat head

Occasional (5-29%)HP:0001357

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Related Conditions

Hereditary disorder of the visual system(parent)

Esotropia(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773405004
UMLS CUI: C4750838
Fully Specified Name: Intellectual disability with strabismus syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.