Phenotype #0000243399
| Individual ID |
00324903 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 42+1w6w-weight 5800g (+2.0SD), length 53cm (-0.2 (six weeks)SD), OFC 42cm (+2.5 (six weeks)SD); weight 26,8 kg (+1,07SD), length 123,1 cm (-0,4SD), 30m-OFC 53cm (+1.7SD); intellectual disability; motor developmental delay; 25m-walk; impaired speech development; no muscular hypotonia; autistic features; (benign external) hydrocephalus, wide liquor spaces; dribbling gait, walks mostly at forefoot; no attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; no dental anomalies; frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; plagiocephaly; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; no heart anomalies |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
6y10m (6 years, 10 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 |
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