Phenotype #0000343486
| Individual ID |
00454879 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
RENU |
| Phenotype details |
see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; non-ambulatory as of 6th grade; no speech; intellectual disability; behavioral issues; aggression, self-injurious behaviors, spitting; hypotonia; seizures; MRI brain abnormal, 14y-diffuse cerebral sulcal prominence without malformation of cortical development identified. Subcortical white matter T2 hyperintensity present in bilateral frontal, parietal and anterior temporal lobes. Cerebellar volume and signal are normal. There is decreased anterior pituitary gland height. Posterior pituitary bright spot is normal. There is diffuse thinning of the corpus callosum, reflecting white matter volume loss. No abnormality is identified within the brainstem. The craniocervical junction is normal. Asymmetric marked enlargement of the left occipital and temporal horns is unchanged with weighted configuration of the lateral borders and adjacent white matter volume loss and patchy periventricular T2 hyperintensity. Enlargement of the third ventricle. The fourth ventricle remains normal in size. There is no polar periventricular edema. |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
21y (21 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 |
2024-09-30 10:26:47 +02:00 (CEST) |
| Date last edited |
N/A |
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