Overview
Contiguous ABCD1 DXS1357E deletion 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 hypomyelination
Always present (100%)HP:0006808
Corticospinal signs
Always present (100%)HP:0007256
Decreased size of cranium
Always present (100%)HP:0000252
Mental retardation, severe
Always present (100%)HP:0010864
Poor weight gain
Always present (100%)HP:0001508
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Quadriplegia
Very frequent (80-99%)HP:0002445
Slowed or blocked flow of bile from liver
Very frequent (80-99%)HP:0001396
Cerebral atrophy
Frequent (30-79%)HP:0002059
Cholangitis
Frequent (30-79%)HP:0030151
Cortical white matter abnormalities seen on MRI
Frequent (30-79%)HP:0002500
Epilepsy
Frequent (30-79%)HP:0001250
Increased plasma levels of very long-chain fatty acid
Frequent (30-79%)HP:0033643
Optic atrophy
Frequent (30-79%)HP:0000648
Sensorineural deafness
Frequent (30-79%)HP:0000407
Small for gestational age infant
Frequent (30-79%)HP:0001511
Abnormal liver function
Occasional (5-29%)HP:0002910
Cataract
Occasional (5-29%)HP:0000518
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Dystonic movements
Occasional (5-29%)HP:0001332
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Infratentorial atrophy
Occasional (5-29%)HP:0001272
Small adrenal glands
Occasional (5-29%)HP:0000835
Small nose
Occasional (5-29%)HP:0003196
Squint
Occasional (5-29%)HP:0000486
Funny looking face
HP:0001999
Related Conditions
Digestive system hereditary disorder(parent)
Inherited metabolic disorder of nervous system(parent)
Metabolic and genetic disorder affecting the liver(parent)
Loss of single peroxisomal function(parent)
X-linked recessive hereditary disease(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Quick Facts
- SNOMED CT
- 773415005
- UMLS CUI
- C3806634
- Fully Specified Name
- Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.