Phenotype #0000270813
| Individual ID |
00375599 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder, recurring autoinflammation |
| Diagnosis/Definite |
- |
| Phenotype details |
2y10m-died from thromboembolic multiorgan failure; uncomplicated pregnancy; birth normal measurements, OFC 33cm, weight 2830g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebellar hypoplasia/Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, thin corpus callosum, hypomyelinisation, basilar impression, progressive atrophy in follow-up after 17 months; febrile seizures, generalized epilepsy; impaired visual fixation/reaction, strabism; mildly elevated transaminases and LDH; pericard effusion, biventricular hypertrophy; dispersed areas of PAS-positive plaques in cardiomyocytes, hepatocytes, macrophages; deposits remained after PAS diastase stain; inflammatory arthritis elbows, hip, thrombocytosis, elevated number of monocytes and leukocytes, elevated CRP; hyperthyreosis, PEG; lactate max 5.0 mmol/l, usually not elevated (1-2 mmol/l) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y10m (2 years, 10 months) |
| Age/Diagnosis |
- |
| Age/Onset |
1d |
| 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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