Phenotype #0000270803
| Individual ID |
00375589 |
| Associated disease |
? |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth OFC normal, weight 3.5kg, length normal; weight 2.5kg (−5 SD); 9m-died from cardiac arrest; developmental delay (HP:0001263); no secondary microcephaly (-HP:0005484); failure to thrive (HP:0001508); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (tonic); no recurrent fever (-HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
6m |
| Age/Diagnosis |
- |
| Age/Onset |
4m |
| 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 |
2021-06-11 23:06:52 +02:00 (CEST) |
| Date last edited |
N/A |
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