X-linked intellectual disability Hedera type

disorder

SNOMED 726727003CUI C1845543

Overview

X-linked intellectual disability Hedera type 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.

Cerebral atrophy

Always present (100%)HP:0002059

Delayed CNS myelination

Always present (100%)HP:0002188

Epilepsy

Always present (100%)HP:0001250

Hyporeflexia

Always present (100%)HP:0001265

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Narrow forehead

Always present (100%)HP:0000341

Parkinsonian disease

Always present (100%)HP:0001300

Psychomotor development deficiency

Always present (100%)HP:0001263

Slowness of movements

Always present (100%)HP:0002067

Thinning of the corpus callosum

Always present (100%)HP:0033725

Generalized tonic-clonic seizure (without specification of onset)

Very frequent (80-99%)HP:0002069

Mental-retardation

Very frequent (80-99%)HP:0001249

Clumsy tandem walking

Frequent (30-79%)HP:0031629

Delayed language development

Frequent (30-79%)HP:0000750

Extrapyramidal muscular rigidity

Frequent (30-79%)HP:0007076

Falls

Frequent (30-79%)HP:0002527

Hyporeflexia of lower limbs

Frequent (30-79%)HP:0002600

Hyporeflexia of upper limbs

Frequent (30-79%)HP:0012391

Muscle rigidity

Frequent (30-79%)HP:0002063

No development of motor milestones

Frequent (30-79%)HP:0001270

Sudden loss of muscle tone

Frequent (30-79%)HP:0010819

Unsteady walk

Frequent (30-79%)HP:0002317

Abnormal finger chase test

Occasional (5-29%)HP:0001310

Absent Achilles reflex

Occasional (5-29%)HP:0003438

Agraphesthesia

Occasional (5-29%)HP:0011812

Apraxia

Occasional (5-29%)HP:0002186

Astereognosis

Occasional (5-29%)HP:0010527

Ataxic tremor

Occasional (5-29%)HP:0002345

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Calcaneovalgus Foot

Occasional (5-29%)HP:0001848

Related Conditions

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 726727003
UMLS CUI: C1845543
Fully Specified Name: X-linked intellectual disability Hedera type (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.