Phenotype #0000243405
| Individual ID |
00324909 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39wweight 3452g (-0.1SD); weight 20.5/+1.1 SD), length 110cm (-1,3SD), OFC 53cm (+1.0SD); intellectual disability (IQ 55); minimal motor developmental delay; 18m-walk; impaired speech development; no impaired receptive language; no muscular hypotonia; no autistic features; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment (left minor conductive); epicanthic folds; thin upper lip; no dental anomalies; no frontal bossing; open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; 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 |
5y5m (5 years, 5 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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