Overview
Hypotonia cystinuria 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.
Cystine crystalluria
Always present (100%)HP:0033067
Delayed ability to walk
Always present (100%)HP:0031936
Feeding difficulties in infancy
Always present (100%)HP:0008872
Growth delay as children
Always present (100%)HP:0008897
Psychomotor development deficiency
Always present (100%)HP:0001263
Ragged-red muscle fibers
Always present (100%)HP:0003200
Truncal hypotonia
Always present (100%)HP:0008936
Weak cry
Always present (100%)HP:0001612
Cystinuria
Very frequent (80-99%)HP:0003131
Decreased fetal movement
Very frequent (80-99%)HP:0001558
Eye drop
Very frequent (80-99%)HP:0000508
Growth deficiency
Very frequent (80-99%)HP:0001510
Kidney stones
Very frequent (80-99%)HP:0000787
Nasal speech
Very frequent (80-99%)HP:0001611
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased blood lactate
Frequent (30-79%)HP:0002151
Low blood calcium levels
Frequent (30-79%)HP:0002901
Palpebronasal fold
Frequent (30-79%)HP:0000286
Retrognathia
Frequent (30-79%)HP:0000278
Seizures
Frequent (30-79%)HP:0001250
Tiredness
Frequent (30-79%)HP:0012378
Congenital hypotonia
HP:0001319
Decreased response to growth hormone stimulation test
HP:0000824
Depressed nasal root/bridge
HP:0005280
Facial palsy
HP:0010628
Generalised decreased muscle tone
HP:0001290
Hyperphagia
HP:0002591
Related Conditions
Quick Facts
- SNOMED CT
- 721173005
- UMLS CUI
- C1848030
- Fully Specified Name
- Hypotonia cystinuria 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.