| Individual ID |
00324102 |
| Associated disease |
NDD |
| Diagnosis/Initial |
developmental delay/intellectual disability |
| Diagnosis/Definite |
- |
| Phenotype details |
developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; oral motor hypotonia; feeding difficulties; no epilepsy/seizures; chiari malformation; obstructive hydrocephalus; macrocerebellum; facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; elevated liver enzymes possibly due to cystic fibrosis with exocrine pancreatic insufficiency; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; recurrent infections; hypothyroidsim; no von Willebrand disease; short stature; poor weight gain; failure to thrive |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
28m |
| 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 |
2020-11-30 17:48:48 +01:00 (CET) |
| Date last edited |
N/A |
