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PEHO-like syndrome

disorder
SNOMED 770678005CUI C1850056

Overview

PEHO-like 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.

Cerebral pachygyria
Always present (100%)HP:0001302
Congenital hypotonia
Always present (100%)HP:0001319
Degeneration of cerebellum
Always present (100%)HP:0001272
Dilated cerebral ventricle
Always present (100%)HP:0002119
Feeding difficulties
Always present (100%)HP:0011968
Fewer or absent grooves in brain
Always present (100%)HP:0001339
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Hypsarrhythmia by EEG
Always present (100%)HP:0002521
Increased reflexes
Always present (100%)HP:0001347
Intellectual disability, profound
Always present (100%)HP:0002187
Jerking
Always present (100%)HP:0001336
Microcephaly, progressive
Always present (100%)HP:0000253
More grooves in brain
Always present (100%)HP:0002126
Muscular hypotonia
Always present (100%)HP:0001252
Narrow forehead
Always present (100%)HP:0000341
Nasal hypoplasia
Always present (100%)HP:0003196
No speech development
Always present (100%)HP:0001344
Optic atrophy
Always present (100%)HP:0000648
Palpebronasal fold
Always present (100%)HP:0000286
Profound global developmental delay
Always present (100%)HP:0012736
Prolonged seizure
Always present (100%)HP:0002133
Puffy cheeks
Always present (100%)HP:0000293
Retrognathia
Always present (100%)HP:0000278
Slack jawed appearance
Always present (100%)HP:0000194
Tapering fingers
Always present (100%)HP:0001182
Visual fixation instability
Always present (100%)HP:0025405
Water retention
Always present (100%)HP:0000969
Infantile encephalopathy
HP:0007105
Sloping forehead
HP:0000340

Related Conditions

Chronic brain syndrome(parent)
Degenerative brain disorder(parent)
Seizure disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary degenerative disease of central nervous system(parent)
Disorder characterized by edema(parent)
Disorder of face(parent)
Disorder of extremity(parent)

Quick Facts

SNOMED CT
770678005
UMLS CUI
C1850056
Fully Specified Name
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (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.