Phenotype #0000228820
| Individual ID |
00301722 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
microcephaly (HC:35 cm/ at 18 months), severe developmental delay, no contact or interaction, spasticity of all limbs, mild dysmorphism and seizures (mainly myoclonic). MRI brain revealed severe brain atrophy. Her sibling is 7 years 8 months old is also affected with microcephaly (HC: 39 cm/ at 5 YEARS:), severe developmental delay, spasticity of all limbs, failure to thrive and seizures (multifocal) MRI at 5 years of age showed global cerebral volume loss predominantly within the white matter subcortical and deep component as well as thinning of the overlying cortex resulting in prominence of extra-axial CSF spaces and lateral ventricle. Thinning of the corpus callosum. MR spectroscopy demonstrates mild reduced NAA peak at the basal ganglia and moderate reduced NAA peak at the cerebral cortex in keeping with neuronal loss. Their lactate (serum) and liver enzymes were normal. Parents are first cousins. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
34m |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| 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 |
2020-05-22 17:20:34 +02:00 (CEST) |
| Date last edited |
N/A |
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