Phenotype #0000258196
| Individual ID |
00362826 |
| Associated disease |
WARBM |
| Diagnosis/Initial |
Warburg Micro syndrome |
| Diagnosis/Definite |
WARBM3 |
| Phenotype details |
postnatal growth retardation; postnatal microcephaly; profound developmental delay; severe axial hypotonia; not walking; 17m-bilateral cortical thumbs, bilateral crossed adductors, ankle clonus, upper motor neuron dysfunction, and marked visual inattention, 8y-severe spastic quadriplegia with distal limb contractures; no speech; 5y-myoclonic seizures which appeared intractable to multiple anticonvulsants (20–25 episodes per day); MRI brain 2y-bilateral frontal polymicrogyria extending back to the perisylvian region, thickened frontal cortex (measuring 10 mm), enlarged and irregular lateral ventricles with lobulated ventricular walls suggesting heterotopic gray matter, a thin corpus callosum, and a normal brainstem and cerebellum; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; fused hypoplastic labia minora |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
23y (23 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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