Phenotype #0000270794
| Individual ID |
00375580 |
| Associated disease |
? |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth OFC normal, weight 3.75kg, length normal; OFC 39cm (−5 SD), weight 4.9kg (−5.3 SD), length 68cm (−2.7 SD); 18m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); aseptic osteomyelitis (HP:0002754) (tibia, elbow, hip); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); no muscular spasticity (-HP:0001257); hepatomegaly (HP:0002240) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
12m |
| 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 |
2021-06-11 23:06:52 +02:00 (CEST) |
| Date last edited |
N/A |
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