Phenotype #0000270820
| Individual ID |
00375606 |
| Associated disease |
? |
| Diagnosis/Initial |
multisystem disorder, recurring autoinflammation |
| Diagnosis/Definite |
- |
| Phenotype details |
alive; maternal anemia, nausea, vomiting, maternal hypothyroidism, slow weight gain in the last trimester; birth normal measurements, OFC 32cm, weight 2600g; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, hypomyelination, thin corpus callosum, vermian hypoplasia, microcephaly, pontine hypoplasia; no seizures, EEG shows susceptibility to seizures; initial concerns with inattentiveness, intermittent exotropia, cortical visual impairment; liver normal; no cardiac anomalies; bilateral hip effusions, episode of right sided pneumonia with pleural effusion; G-tube feedings; lactate 2.0 mmol/l |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
2y2m (2 years, 2 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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