Phenotype #0000345815
| Individual ID |
00457352 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDLBF |
| Phenotype details |
see paper; ..., birth 38w+5; Infant feeding difficulties; no failure to thrive; marked speech delay; marked motor delay; intellectual disability; no regression of developmental milestones; delayed closing anterior fontanelle; ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; diagnosed with unspecified behavioral and emotional disorders; no macrocephaly; +; MRI brain normal; hHistory one febrile seizure brought on by 104 degree fever; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; acid reflux issues were noted shortly after birth; no skeletal alterations; exotropia right eye; no hearing impairment; flat face, deep set eyes, hypertelorism, bulbous nose, long philtrum, thin upper lip, low-set and posteriorly rotated ears, deep and prominent concha, broad forehead |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y2m (4 years, 2 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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