Phenotype #0000270815
| Individual ID |
00375601 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder, recurring autoinflammation |
| Diagnosis/Definite |
- |
| Phenotype details |
8y11m-died from multiorgan failure; polyhydramnion; birth normal measurements, OFC 36cm, weight 3370g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature (3rd percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, left frontal porencephalic defect, thin corpus callosum, elevated lactate values and lactate peak in MR spectroscopy; no seizures; strabism; hepatomegaly, elevated transaminases; liver: macrophages and hepatocytes with PAS+ inclusions, glycogen deposits; decreased branching enzyme activity; no cardiac anomalies; recurring bronchitis and pneumonia; inflammatory arthritis left hip; spontaneous femur fracture, flexion contractures in elbows, knees and toes, PEG, splenomegaly; muscle PAS+ material, polyglucosan bodies, mitochondrial alterations |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
8y11m (8 years, 11 months) |
| Age/Diagnosis |
- |
| Age/Onset |
6m |
| 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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