Phenotype #0000296381
| Individual ID |
00403686 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
DENNED |
| Phenotype details |
birth 41w, 5dweight 3700g (SD+1), length 50cm (SD+1.9), OGC32.5cm (SD-2); 17m weight 11.8kg (SD11–50th), length 79.5cm (SD3rd), OFC 40cm (SD−4) 33m-unchanged (SD−8); microcephaly, sloping forehead, large ears with fleshy lobules; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 18m-head control intermittent; not sitting; 33m-walk with walker; no speech; severe developmental delay/intellectual disability; cerebral visual impairment; hypotonic with brisk reflexes; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; infantile spasms, evolving into generalised tonic–clonic, tonic and startle seizures. Refractory to medication and ketogenic diet; EEG hypsarrhythmia; 7m-MRI-brain moderate dilation of the extra-axial CSF space and supratentorial ventricular system, reduction of the bulk of white matter and delayed myelination |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
00y33m (33 months) |
| 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 |
2022-02-20 16:20:51 +01:00 (CET) |
| Date last edited |
2024-11-08 11:20:20 +01:00 (CET) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
