Phenotype #0000359671
| Individual ID |
00474878 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental syndrome |
| Diagnosis/Definite |
DEDHIL |
| Phenotype details |
see paper; ..., delayed language; poor gross motor skills; attention/mood; symptoms autism spectrum disorder; no ophthalmologic problems; acute OME (baby), no gommets, no concerns with hearing; tonsillectomy, superior adenoidectomy after speech assessment; orthodontics; birth heart murmur (no follow up needed); OSA, now resolved; fussy eater; no renal anomalies; no genitourinary problems; no hematologic problems; High end of %ile charts on height and weight, no official measurements yet because of COVID, but Mum said heading in same direction as Marcelle; no musculoskeletal problems; no immunological problems; normal skin; pharyngoplasty, post pharyngeal wall flap, 'non-cleft VPI'; anxiety; deeply set eyes, periorbital fullness; normal hands, normal feet |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
6y3m (6 years, 3 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 |
2026-03-27 14:20:42 +01:00 (CET) |
| Date last edited |
N/A |
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