Overview
Neurocutaneous syndrome Bicknell type 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.
Central hypotonia
Always present (100%)HP:0001252
Decreased body height
Always present (100%)HP:0004322
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Episodic vomiting
Always present (100%)HP:0002572
Generalized elastolysis
Always present (100%)HP:0000973
Increased reflexes
Always present (100%)HP:0001347
Low plasma citrulline
Always present (100%)HP:0003572
Lower limb hyperreflexia
Always present (100%)HP:0002395
Moderate mental retardation
Always present (100%)HP:0002342
No speech development
Always present (100%)HP:0001344
Poor weight gain
Always present (100%)HP:0001508
Prominent superficial vasculature
Always present (100%)HP:0007394
Cataract
Very frequent (80-99%)HP:0000518
Loose-jointedness
Very frequent (80-99%)HP:0001382
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Arginine deficiency
Frequent (30-79%)HP:0005961
Athetoid movements
Frequent (30-79%)HP:0002305
Dislocated femoral heads
Frequent (30-79%)HP:0002827
High blood ammonia levels
Frequent (30-79%)HP:0001987
Hypoprolinemia
Frequent (30-79%)HP:0500139
Low blood ornithine levels
Frequent (30-79%)HP:0500163
Cryptorchidism
Occasional (5-29%)HP:0000028
Arcus juvenilis
HP:0001084
Cobb angle greater than ten degrees
HP:0002650
Congenital hip dislocations
HP:0001374
Decreased hair growth
HP:0008070
Decreased width of nasal dorsum
HP:0000418
Epilepsy
HP:0001250
Related Conditions
Quick Facts
- SNOMED CT
- 1295485009
- UMLS CUI
- C5234852
- Fully Specified Name
- Aldehyde dehydrogenase 18 family member A1-related de Barsy 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.