Kohlschutter's syndrome

disorder

SNOMED 109478007CUI C0406740

Overview

Kohlschutter's 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.

Delayed ability to walk

Always present (100%)HP:0031936

Delayed language development

Always present (100%)HP:0000750

Abnormal tooth enamel

Very frequent (80-99%)HP:0000682

Abnormality of dental color

Very frequent (80-99%)HP:0011073

Amelogenesis imperfecta

Very frequent (80-99%)HP:0000705

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Progressive dementia

Very frequent (80-99%)HP:0000726

Psychomotor regression in infants

Very frequent (80-99%)HP:0002376

Seizures

Very frequent (80-99%)HP:0001250

Yellow-brown discolored teeth

Very frequent (80-99%)HP:0006286

Decreased sweating

Frequent (30-79%)HP:0000966

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Focal seizures

Occasional (5-29%)HP:0007359

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Mental and motor retardation

Occasional (5-29%)HP:0001263

Myoclonic seizure

Occasional (5-29%)HP:0032794

Nonsyndromal hydrocephalus

Occasional (5-29%)HP:0000238

Ataxia

HP:0001251

Cerebral atrophy

HP:0002059

Dilated cerebral ventricle

HP:0002119

Epileptic encephalopathy

HP:0200134

Hypsarrhythmia by EEG

HP:0002521

Mental retardation, severe

HP:0010864

Poor school performance

HP:0001249

Small cerebellum

HP:0001321

Thin dental enamel

HP:0006297

Related Conditions

Amelogenesis imperfecta(parent)

Epilepsy(parent)

Ectodermal dysplasia with tooth-sweating defect(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the integument(parent)

Genetic intellectual disability(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 109478007
UMLS CUI: C0406740
Fully Specified Name: Amelocerebrohypohidrotic syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.