Phenotype #0000330527
| Individual ID |
00440615 |
| Associated disease |
PVNH |
| Diagnosis/Initial |
periventricular nodular heterotopia |
| Diagnosis/Definite |
PVNH8 |
| Phenotype details |
microcephaly; no growth delay; motor delay; 14m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder, anxiety, occasional aggressive behaviors; 3y-two convulsive seizures; EEG persistent diffuse activity, independent sharp waves in left parietal temporal and right central temporal regions; hypotonia; diminished balance, coordination, and core strength; MRI brain 15m/7y-periventricular nodular heterotopia; flat forehead,left exotropia, mildly upslanting palpebral fissures, Robin sequence without cleft, severe crowding clas II malocclusion of middle mixed dentition, micrognathia; left conductive hearing loss, abundant ear wax; amblyopia, exotropia; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, obstructive sleep apnea spontaneously resolved. Awakenings, poor sleep patterns, improved with klonopin. |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y6m (12 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-11-05 11:38:45 +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.
|
