Phenotype #0000356541
| Individual ID |
00471732 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., intrauterine growth restriction; birth 35+3w; neonatal hospitalized for 3 days due to neonatal jaundice; birth length 41cm (<P1, -3.0 SD), weight 1690g (<P1, -2.7 SD), OFC 31.5cm (P10, -1.3 SD); length 139cm (P31, -0.5 SD), weight 31.5kg (P16, -1.0 SD), OFC 55cm (P90, 1.3 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; anxiety, tends to avoid social interactions when he doesn't know the person; 14m-sit; 23m-walk; social smile on time; 2y6m-speech "mom" and "dad", 9y-first sentences; no seizure; 4y-MRI brain small hypophysis; normal coordination; normal muscle tone; low-set ears, thin upper lip with long filtrum, retrognathia, long and narrow nose; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; discrete conductive hearing loss, better with trans-tympanic ventilation tubes; strabism; no nystagmus; normal cardiovascular system; left extra-sinus renal pelvis; normal spine morphology; 2 pneumonias with last one taken care in ICU, recurrent otitis, failure to thrive, cryptorchidism |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
11y1m (11 years, 1 month) |
| 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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