Neuhauser Eichner Opitz syndrome

disorder

SNOMED 1208339007CUI C1851708

Overview

Neuhauser Eichner Opitz 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.

Ataxia

Very frequent (80-99%)HP:0001251

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Muscle rigidity

Very frequent (80-99%)HP:0002063

Muscle stiffness

Very frequent (80-99%)HP:0003552

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Abnormality of movement

Frequent (30-79%)HP:0100022

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Hyporeflexia

Frequent (30-79%)HP:0001265

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Behavioural disorders

Occasional (5-29%)HP:0000708

Difficulty finding words

Occasional (5-29%)HP:0002381

Echologia

Occasional (5-29%)HP:0010529

Muscular hypotonia

Occasional (5-29%)HP:0001252

Mutism

Occasional (5-29%)HP:0002300

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary ataxia(parent)

Recurrent disease(parent)

Quick Facts

SNOMED CT: 1208339007
UMLS CUI: C1851708
Fully Specified Name: Neuhauser Eichner Opitz syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.