Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal localization of kidney
Very frequent (80-99%)HP:0100542
Aplasia/Hypoplasia of the nipples
Very frequent (80-99%)HP:0006709
Blepharophimosis
Very frequent (80-99%)HP:0000581
Congenital hepatic fibrosis
Very frequent (80-99%)HP:0002612
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased circulating iron concentration
Very frequent (80-99%)HP:0003452
Increased serum ferritin level
Very frequent (80-99%)HP:0003281
Low blood sugar
Very frequent (80-99%)HP:0001943
Nasal hypertrophy
Very frequent (80-99%)HP:0000448
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Abnormality of iron homeostasis
HP:0011031
Bleeding tendency
HP:0001892
Cirrhosis
HP:0001394
Death of liver cells
HP:0001404
Decreased amniotic fluid index
HP:0001562
Hepatic failure
HP:0001399
Jaundice, neonatal
HP:0006579
Liver fibrosis
HP:0001395
Nonimmune hydrops fetalis
HP:0001790
Slowed or blocked flow of bile from liver
HP:0001396
Small for gestational age infant
HP:0001511
Related Conditions
Quick Facts
- SNOMED CT
- 6160004
- UMLS CUI
- C0268059
- Fully Specified Name
- Neonatal hemochromatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.