Phenotype #0000230438
| Individual ID |
00303361 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no abnormalities during pregnancy; perinatal distress with low Apgar scores; birth 37w+3; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; ataxia; no behavioral disturbances; no sleep disturbances; MRI brain normal; no regression; prominent resting low amplitude fast frequency tremor and almost titubation; subtle facial dysmorphisms; enamel dysplasia; no drooling, dysphagia; parental concerns, did not cooperate with testing; left strabismus; ventricle and atrial septum defect; no skeletal abnormalities, no limb abnormalities; hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (151 U/L) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y (12 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 |
2020-06-10 17:04:23 +02:00 (CEST) |
| Date last edited |
2021-04-11 14:58:28 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
