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FOXG1 syndrome

disorder
SNOMED 702450004CUI C3150705

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cortical gyral simplification
Always present (100%)HP:0009879
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to walk
Always present (100%)HP:0031936
Delayed language development
Always present (100%)HP:0000750
Generalised decreased muscle tone
Always present (100%)HP:0001290
Mental retardation, severe
Always present (100%)HP:0010864
Psychomotor development deficiency
Always present (100%)HP:0001263
Underdeveloped frontal lobe
Always present (100%)HP:0007333
Central hypotonia
Very frequent (80-99%)HP:0001252
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Dyskinesia
Very frequent (80-99%)HP:0100660
Epilepsy
Very frequent (80-99%)HP:0001250
Feeding difficulties
Very frequent (80-99%)HP:0011968
Gait disturbance
Very frequent (80-99%)HP:0001288
Microcephaly, progressive
Very frequent (80-99%)HP:0000253
Repetitive behaviour Stereotypic behaviour
Very frequent (80-99%)HP:0000733
Squint
Very frequent (80-99%)HP:0000486
Abnormality of movement
Frequent (30-79%)HP:0100022
ASD
Frequent (30-79%)HP:0000729
Bruxism
Frequent (30-79%)HP:0003763
Choreoathetosis
Frequent (30-79%)HP:0001266
Corpus callosum abnormality
Frequent (30-79%)HP:0001273
Decreased body height
Frequent (30-79%)HP:0004322
Decreased body weight
Frequent (30-79%)HP:0004325
Delayed myelination
Frequent (30-79%)HP:0012448
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Focal seizures
Frequent (30-79%)HP:0007359
Frequently cries for no reason
Frequent (30-79%)HP:0030215
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069

Quick Facts

SNOMED CT
702450004
UMLS CUI
C3150705
Fully Specified Name
FOXG1 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.