Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome

disorder

SNOMED 1197591008CUI C5681179

Overview

Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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.

Abnormality of the ankle

Always present (100%)HP:0003028

Coarse face

Always present (100%)HP:0000280

Finger joint hypermobility

Always present (100%)HP:0006094

Genu valga

Always present (100%)HP:0002857

Mental retardation, severe

Always present (100%)HP:0010864

Peripheral hypotonia

Always present (100%)HP:0001252

Squint

Always present (100%)HP:0000486

Obesity

Very frequent (80-99%)HP:0001513

Epilepsy

Frequent (30-79%)HP:0001250

Gait disturbance

Frequent (30-79%)HP:0001288

Trouble sleeping

Frequent (30-79%)HP:0002360

Related Conditions

Congenital valgus deformity of foot(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital strabismus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1197591008
UMLS CUI: C5681179
Fully Specified Name: Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.