Phenotype #0000243403
| Individual ID |
00324907 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 40wweight 4.1g (+0.2SD), length 51/-0.8SD),, OFC 34/-2.1SD); weight 21,1kg (+2.2SD), length 104,7cm (+1.2SD), OFC 49,5cm (-0.2SD); intellectual disability; motor developmental delay; 30m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; gait abnormalities; seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; no dental anomalies; no frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; no heart anomalies; prominent metopic suture, eczema |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y6m (3 years, 6 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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