Phenotype #0000270817
| Individual ID |
00375603 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder, recurring autoinflammation |
| Diagnosis/Definite |
- |
| Phenotype details |
4y-died from seizures and cardiomyopathy; uncomplicated pregnancy, neonatal onset (tibial aseptic asteomyelitis); birth normal measurements, OFC 33.7cm, weight 2980g, length 51.5cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebral atrophy; epilepsy; no eye anomalies; hepatomegaly, elevated transaminases and LDH; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion); enzymatic activity of glycogen branching enzyme in the liver not detected; dilated cardiomyopathy, left ventricular dysfunction; episodes of aseptic osteomyelitis: tibia, elbow, hip; skull (fronto-parietal empyema?) elevated CRP |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
4y (4 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<0d |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-06-12 22:50:35 +02:00 (CEST) |
| Date last edited |
N/A |
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