Phenotype #0000243397
| Individual ID |
00324901 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 37+5w, weight 2230g (-1.71SD) length 45cm (-1.87SD), OFC 33cm (-0.64SD); weight 19.6kg (-4.5SD), length 118cm (-4.5SD), OFC 51.3cm (-1.7SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; gait ataxic-dyskinetic, not walking without support; no attention deficit hyperactivity disorder; seizures, refractory; no strabism; no visual impairment; no agressive behaviour; hypopnea & slep apnea; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; teeth discoloration, dental plaque; frontal bossing; open mouth appearance; no deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; patent foramen ovale, bicuspid aortic valve, cryptogenic heart block (1-3°) from 6m-walk of life, necessitating pacemaker implantation; sensitive to sunlight (necessitating sunglasses) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
11y9m (11 years, 9 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 |
2020-12-24 16:46:49 +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.
|
