National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Early infantile epileptic encephalopathy 18




This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
EEG abnormality 0002353
Epileptic encephalopathy 0200134
Focal-onset seizure
Seizure affecting one half of brain
0007359
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Global developmental delay 0001263
High forehead 0000348
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
0002553
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Ptosis
Drooping upper eyelid
0000508
Thick corpus callosum 0007074
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

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