Phenotype #0000345814
| Individual ID |
00457351 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDLBF |
| Phenotype details |
see paper; ..., birth 40w; Infant feeding difficulties; failure to thrive; speech problems, 2y6m-first words; motor delay, 12m-sit, 17m-stand, 22m-walk without support; intellectual disability; no regression of developmental milestones; developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; -(55.3 cm(55th centile)-13Y9M); MRI brain mild vermis hypoplasia and a thin corpus callosum, no structural abnormalities; EEG brain generalized background slowing; epileptic seizures only one time; no epilepsy; no sleep disturbances; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; myopia (-2D L and R)); no hearing impairment; hypotonia; broad forehead, small palpebral fissure, cow's lick on forehead, deep and prominent concha |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
13y9m (13 years, 9 months) |
| Age/Diagnosis |
2y |
| 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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