Phenotype #0000343466
| Individual ID |
00454859 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
RENU |
| Phenotype details |
see paper; ..., intra-uterine growth retardation; short stature; microcephaly, acquired (birth-OFC normal 35cm with progression); severe global developmental delay; 5y-walk, ataxic gait; no speech (8m-responded to name being called, 12m-babbleds); intellectual disability; behavioral issues; hitting now and more behavior; self-stimulation Affect generally appeared flatter than expected, as patient generally appeared to process slowly and required enhanced and elongated stimulation. Self injurious behavior and self stimulating behavior; hypotonia; seizures; MRI brain abnormal, findings are indicative of volume loss/atrophy. However correlation with head circumference, to exclude possible superimposed communicating hydrocephalus, is also advised.2. Opacified paranasal sinuses, tympanic cavities and mastoid air cells. Might be infectious/inflammatory in nature. Findings: The corpus callosum is small in size/atrophic in nature. The optic chiasm and nerves are also small in size. The brainstem is low normal in size. Age 3: Mild cerebral atrophy or volume loss is noted. Ventriculomegaly. Enlarged cerebral subarachnoid space. Hypoplasia of corpus callosum and brainstem. Pineal cyst |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
7y (7 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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