Phenotype #0000345810
| Individual ID |
00457347 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDLBF |
| Phenotype details |
see paper; ..., birth 38w; no prenatal anomalies; no Infant feeding difficulties; no failure to thrive; receptive language test 75/80; motor delay; intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(52 cm(3rd centile); MRI brain malacic lesion at white mater of right occipital horn, ex-vacuo dilation of right occipital horn; EEG brain spike-wave discharges in precentral areas and temporal area; 1y-tonic-clonic seizures during fever and without feve, seizures mainly affected one hemisoma, 3y-absence seizures; epilepsy; no sleep disturbances; oromandibular dystonia; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; mild synophrys; three cafe-au-lait spots and one hypochromic macula |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
15y8m (15 years, 8 months) |
| Age/Diagnosis |
15y8m |
| 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 |
2024-11-08 11:01:45 +01:00 (CET) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
