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Contactin associated protein 2-related developmental and epileptic encephalopathy

disorder
SNOMED 1230376005CUI C5575702

Overview

Contactin associated protein 2-related developmental and epileptic encephalopathy 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.

Abnormal neuronal morphology
Very frequent (80-99%)HP:0012757
Abnormality of neuronal migration
Very frequent (80-99%)HP:0002269
Delayed ability to walk
Very frequent (80-99%)HP:0031936
Focal seizures
Very frequent (80-99%)HP:0007359
Seizures
Very frequent (80-99%)HP:0001250
Speech difficulties
Very frequent (80-99%)HP:0000750
Delayed motor milestones
Frequent (30-79%)HP:0001270
EEG with generalized epileptiform discharges
Frequent (30-79%)HP:0011198
EEG with generalized polyspikes
Frequent (30-79%)HP:0012001
EEG: generalized slow activity
Frequent (30-79%)HP:0010845
Intellectual deterioration
Frequent (30-79%)HP:0001268
Interictal epileptiform activity
Frequent (30-79%)HP:0011182
Mental retardation, severe
Frequent (30-79%)HP:0010864
Problems speaking
Frequent (30-79%)HP:0002465
Progressive language deterioration
Frequent (30-79%)HP:0007064
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Secondary generalized tonic clonic seizures
Frequent (30-79%)HP:0007334
Abnormal temper tantrums
Occasional (5-29%)HP:0025160
Areflexia
Occasional (5-29%)HP:0001284
Ataxia
Occasional (5-29%)HP:0001251
Autism
Occasional (5-29%)HP:0000717
Behavioral changes
Occasional (5-29%)HP:0000708
Cavus foot
Occasional (5-29%)HP:0001761
CP
Occasional (5-29%)HP:0100021
Dermatillomania
Occasional (5-29%)HP:0012166
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
EEG with focal spikes
Occasional (5-29%)HP:0011193
Enlarged liver
Occasional (5-29%)HP:0002240
Episodic hyperventilation
Occasional (5-29%)HP:0004879
Feeding difficulties
Occasional (5-29%)HP:0011968

Related Conditions

Developmental hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
DEE - developmental and epileptic encephalopathy(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1230376005
UMLS CUI
C5575702
Fully Specified Name
Contactin associated protein 2-related 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.