Schindler disease type 1

disorder

SNOMED 879937000CUI C1836544

Overview

Schindler disease type 1 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 brainstem morphology

Very frequent (80-99%)HP:0002363

Corticospinal signs

Very frequent (80-99%)HP:0007256

CVI

Very frequent (80-99%)HP:0100704

Deafness

Very frequent (80-99%)HP:0000365

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscle atrophy, generalised

Very frequent (80-99%)HP:0003700

Muscle weakness

Very frequent (80-99%)HP:0001324

Neurodevelopmental regression

Very frequent (80-99%)HP:0002376

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Seizures

Very frequent (80-99%)HP:0001250

Autism

Frequent (30-79%)HP:0000717

Dizziness

Frequent (30-79%)HP:0002321

Epidermal hyperkeratosis

Frequent (30-79%)HP:0000962

Extrapyramidal syndrome

Frequent (30-79%)HP:0002071

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Optic atrophy

Frequent (30-79%)HP:0000648

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Sensory neuropathy

Frequent (30-79%)HP:0000763

Spider veins

Frequent (30-79%)HP:0001009

Squint

Frequent (30-79%)HP:0000486

Teleangiectasia of the skin

Frequent (30-79%)HP:0100585

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Cerebellar hypoplasia/atrophy

Occasional (5-29%)HP:0007360

Enlarged liver

Occasional (5-29%)HP:0002240

Neuropathy

Occasional (5-29%)HP:0009830

Onset of lymphedema around puberty

Occasional (5-29%)HP:0001004

Paresthesia

Occasional (5-29%)HP:0003401

Cognitive delay

HP:0001263

Related Conditions

Schindler disease(parent)

Quick Facts

SNOMED CT: 879937000
UMLS CUI: C1836544
Fully Specified Name: Alpha-N-acetylgalactosaminidase deficiency type 1 (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.