Phenotype #0000356533
| Individual ID |
00471724 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., normal pregnancy; birth 34+5w; neonatal NICU 12d for prematurity; birth weight 2300g (P60, 0.3 SD); length 163cm (P66, 0.4 SD), weight 49.3kg (P54, 0.1 SD), OFC 54.5cm (P67, 0.4 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD-hyperactive type, sensory and auditory processing disorder; no autism; 6m-sit; 12m-walk; early social smile; 9m-speech mama dada, 3y-difficult to understand speech, 13y6m- challenges with social pragmatics and mild expressive language issues; 9y-generalized seizure; EEG frequent runs of 2-2.5Hz generalized spike-wave discharges lasting from 6-60 seconds, sometimes punctuated by brief, lower amplitude theta activity were seen during periods of wakefulness, drowsiness, and stage I/II sleep; MRI brain normal; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; history of severe asthma now under good control |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
13y6m (13 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 |
2026-01-03 11:36:42 +01:00 (CET) |
| Date last edited |
N/A |
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