Phenotype #0000307197
| Individual ID |
00415403 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
41w5/7-birth spontaneous vaginal, weight 2720g (-2.32); olygohydramnion, flexion contratures of feet, knees and elbows, conservatively treated succesfully; height 147,5cm (-0.45), weight 43Kg (0.16), OFC 53,4cm (-0.83), BMI 19.8 (0.84); mild intellectual disability (IQ: 50-60); 12m-sit; 17m-walk; toilet trained; normal self-care; started late to speak, now speech near normal; special education; autistic features; obsessive behaviour, rituals, attention deficit; no sleep disturbances; 1y-multiple fever-related convulsions, <5y-myoclonic absences, EEG abnormalities, good response on medication, 8y-seizure-free; 2y10m-MRI brain/spinal normal; no hypotonia; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; feeding difficulties; phimosis; no endocrinological abnormalities; no metabolic abnormalities; pes planus; thin upper lip, mild shawl scrotum |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y3m (12 years, 3 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 |
2022-08-13 16:30:49 +02:00 (CEST) |
| Date last edited |
N/A |
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