Phenotype #0000325685
| Individual ID |
00435498 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDCFSA |
| Phenotype details |
see paper; ..., no complications pregnancy/delivery; birth 40w+1d; 13m-first words; motor delay, 21m-first steps; learning difficulties; autism spectrum disorder; AHDS, aggressive, impulsive behaivior; psychosis/schizophrenia; uses psychiatric drugs, Methylphenidat; sleep disturbances; hyperphagia, problems in social interaction; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; tics; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; rhinitis sicca; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; hyperphagia; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism |
| Inheritance |
Unknown |
| Age/Examination |
12y4m (12 years, 4 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 |
2023-08-03 13:47:25 +02:00 (CEST) |
| Date last edited |
N/A |
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