Phenotype #0000325707
| Individual ID |
00435520 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDCFSA |
| Phenotype details |
see paper; ..., pregnancy polyhydramnios, elective c-section; birth 39/40w; language/speech delay, 18m-first words; motor delay, 27m-first steps; intellectual disability; no autism spectrum disorder; behavior problems; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet with broad base but otherwise normal gait; 0.5cm bony prominence at level of xiphoid process (no pectus deformity); strawberry neavus was present at back of neck with no other skin lesions or freckling; frontal bossing with deep-set elanguage/speech delay and low-set posteriorly-rotated ears.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3y (3 years) |
| 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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