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FOXG1 syndrome

disorder
SNOMED 702450004CUI C3150705

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. 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
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
Speech delay
Always present (100%)HP:0000750
Underdeveloped frontal lobe
Always present (100%)HP:0007333
Central hypotonia
Very frequent (80-99%)HP:0001252
Dyskinesia
Very frequent (80-99%)HP:0100660
Feeding difficulties
Very frequent (80-99%)HP:0011968
Gait disturbance
Very frequent (80-99%)HP:0001288
Microcephaly, progressive
Very frequent (80-99%)HP:0000253
No development of motor milestones
Very frequent (80-99%)HP:0001270
Repetitive behaviour Stereotypic behaviour
Very frequent (80-99%)HP:0000733
Seizures
Very frequent (80-99%)HP:0001250
Squint
Very frequent (80-99%)HP:0000486
Abnormality of movement
Frequent (30-79%)HP:0100022
ASD
Frequent (30-79%)HP:0000729
Aspiration
Frequent (30-79%)HP:0002835
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
Delayed myelination
Frequent (30-79%)HP:0012448
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Excessive salivation
Frequent (30-79%)HP:0003781
Focal seizures
Frequent (30-79%)HP:0007359
Frequently cries for no reason
Frequent (30-79%)HP:0030215
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020

Related Conditions

Autosomal dominant hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Pervasive developmental disorder(parent)
Congenital anomaly of brain(parent)
Developmental hereditary disorder(parent)

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.