Phenotype #0000270819
| Individual ID |
00375605 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder, recurring autoinflammation |
| Diagnosis/Definite |
- |
| Phenotype details |
alive; uncomplicated pregnancy, mother had two infections prescribed antibiotics; birth normal measurements, OFC 34.5cm, weight 3394g, length 53cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, delayed myelination, thin corpus callosum; reduced N-acetyl-aspartate, no lactate peak in MR spectroscopy; epilepsy; exotropia, myopia; elevated ALT and markedly elevated GGT; ECG showed normal sinus rhythm, with sinus pause and junctional escape rhythm; ECHO showed normal cardiac anatomy and function with an LVED of 2.8; bilateral hip effusions, recurrent respiratory tract infections and aspiration pneumonia, CP; osteopenia, right hip dislocation , chronic pain, right gluteal abscess, G-tube feedings, delayed gastric emptying; lactate 3.7 mmol/l |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
3y9m (3 years, 9 months) |
| Age/Diagnosis |
- |
| Age/Onset |
3m |
| 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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