Phenotype #0000258188
| Individual ID |
00362818 |
| Associated disease |
WARBM |
| Diagnosis/Initial |
Warburg Micro syndrome |
| Diagnosis/Definite |
WARBM3 |
| Phenotype details |
postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 6w-smiled, 7m-rolled, 10m-sitting with support, never pulled to stand or crawled; severe axial hypotonia; not walking; 1-2y-progressive lower limb spasticity resulting in contractures of knees and ankles, little voluntary lower limb movements, areflexic lower limbs, uUpper limbs developed spasiticity later with elbow and finger contractures; no speech; 6y-grand mal seizures; MRI brain 14m-enlarged ventricles with general reduction in surrounding white matter, thin corpus callosum, mega cisterna magna, otherwise structurally normal brain; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
10y (10 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-04-23 16:48:55 +02:00 (CEST) |
| Date last edited |
N/A |
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