Phenotype #0000345812
| Individual ID |
00457349 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDLBF |
| Phenotype details |
see paper; ..., birth 35w; prenatal breech; no Infant feeding difficulties; no failure to thrive; speech delay, 4y-talking; motor delay, 15m-walk; intellectual disability, 15y-functioning at level of 9-10y; no regression of developmental milestones; poor effort tolerance; anxiety; ADHD (iInattentive type); no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; 15y8m-no macrocephaly, OFC 74th centile; -; MRI brain normal; EEG brain normal; no seizures; no epilepsy; 10m-sleep apnea requiring nasal CPAP; metopic craniosynostosis, mild trigonocephaly; no short stature; no congenital heart defects; hyperphagia, prior history of abdominal with diarrhea alternating with constipation; scoliosis (14 degrees), kyphosis (42 degrees); hypermetropia, blinks very frequently; hyperacousia; long face with facial asymmetry, palpebral fissures are straight(interpupillary distance is 53 mm), tubular nose, thin upper lip, mild eversion of lower vermillion, high-arched palate, prominent chin, facial hair, small ears |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
15y9m (15 years, 9 months) |
| Age/Diagnosis |
15y9m |
| 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 |
2024-11-08 11:01:45 +01:00 (CET) |
| Date last edited |
N/A |
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