CDKL5 deficiency disorder

disorder

SNOMED 773230003CUI C4750718

Overview

CDKL5 deficiency disorder 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.

Cognitive delay

Always present (100%)HP:0001263

EEG: generalized slow activity

Always present (100%)HP:0010845

Generalised tonic seizures

Very frequent (80-99%)HP:0010818

Abnormal muscle tone

Frequent (30-79%)HP:0003808

ASD

Frequent (30-79%)HP:0000729

Broad innermost finger bones of the hand

Frequent (30-79%)HP:0009852

Bruxism

Frequent (30-79%)HP:0003763

Constipation

Frequent (30-79%)HP:0002019

Cool skin temperature

Frequent (30-79%)HP:0033850

CVI

Frequent (30-79%)HP:0100704

Delay in head control

Frequent (30-79%)HP:0002421

Delayed gross motor development

Frequent (30-79%)HP:0002194

Feeding difficulties

Frequent (30-79%)HP:0011968

Focal seizures

Frequent (30-79%)HP:0007359

Gait disturbance

Frequent (30-79%)HP:0001288

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Growth failure

Frequent (30-79%)HP:0001510

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Impaired pain sensation

Frequent (30-79%)HP:0007328

Infantile spasms

Frequent (30-79%)HP:0012469

Internal-clock disorders

Frequent (30-79%)HP:0006979

Mental-retardation

Frequent (30-79%)HP:0001249

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Muscular hypotonia

Frequent (30-79%)HP:0001252

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Related Conditions

Developmental delay(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773230003
UMLS CUI: C4750718
Fully Specified Name: Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (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.