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Pili torti with developmental delay and neurological abnormality syndrome
disorderSNOMED 716194005CUI C4274783
Overview
Pili torti with developmental delay and neurological abnormality 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.
Abnormality of hair consistency
Very frequent (80-99%)HP:0010719
Ataxia
Very frequent (80-99%)HP:0001251
Hypotrophic eyebrow
Very frequent (80-99%)HP:0100840
Ligamentous laxity
Very frequent (80-99%)HP:0001382
Pili torti
Very frequent (80-99%)HP:0003777
Poor growth
Very frequent (80-99%)HP:0001510
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Sparse or absent eyelashes
Very frequent (80-99%)HP:0200102
Gait disturbance
Frequent (30-79%)HP:0001288
Muscular hypotonia
Frequent (30-79%)HP:0001252
Related Conditions
Quick Facts
- SNOMED CT
- 716194005
- UMLS CUI
- C4274783
- Fully Specified Name
- Pili torti with developmental delay and neurological abnormality syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 10
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.