Overview
4H leucodystrophy 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.
Ataxia
Very frequent (80-99%)HP:0001251
Cerebral hypomyelination
Very frequent (80-99%)HP:0006808
Dental anomalies
Very frequent (80-99%)HP:0000164
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Dystonic disease
Very frequent (80-99%)HP:0001332
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Near sighted
Very frequent (80-99%)HP:0000545
Decreased body height
Frequent (30-79%)HP:0004322
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed puberty
Frequent (30-79%)HP:0000823
Extrapyramidal dysfunction
Frequent (30-79%)HP:0002071
Eye movement issue
Frequent (30-79%)HP:0000496
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Hyperintensity of cerebral white matter on MRI
Frequent (30-79%)HP:0030890
Sialorrhea
Frequent (30-79%)HP:0002307
Tremor
Frequent (30-79%)HP:0001337
Upper motor neuron dysfunction
Frequent (30-79%)HP:0002493
Abnormal thyroid function
Occasional (5-29%)HP:0002926
Decreased response to growth hormone stimulation test
Occasional (5-29%)HP:0000824
Degeneration of cerebellum
Occasional (5-29%)HP:0001272
Delayed eruption of teeth
Occasional (5-29%)HP:0000684
Dysdiadochokinesis
Occasional (5-29%)HP:0002075
Dysmetria
Occasional (5-29%)HP:0001310
Gaze-evoked nystagmus
Occasional (5-29%)HP:0000640
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Impaired saccades
Occasional (5-29%)HP:0000570
Intellectual deterioration
Occasional (5-29%)HP:0001268
Seizures
Occasional (5-29%)HP:0001250
Cataract
Very rare (1-4%)HP:0000518
Related Conditions
Odontoleukodystrophy(child)
Ataxia, delayed dentition, hypomyelination syndrome(child)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome(child)
Hereditary degenerative disease of central nervous system(parent)
Leucodystrophy(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of tooth(parent)
Hypogonadotropic hypogonadism(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Reproductive system hereditary disorder(parent)
Disorder of tooth development(parent)
Quick Facts
- SNOMED CT
- 1208933000
- UMLS CUI
- C5679947
- Fully Specified Name
- 4H leukodystrophy (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.