Phenotype #0000359670
| Individual ID |
00474877 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental syndrome |
| Diagnosis/Definite |
DEDHIL |
| Phenotype details |
see paper; ..., delayed language; late walker; delayed socially; attention, mood; learning disorder; psychiatrist involved; mild symptoms autism spectrum disorder; no ophthalmologic problems; no hearing loss; submucous cleft palate; tonsillectomy; orthodontics; no cardiac problems; OSA/snoring; 3y-hospitalised pneumonia; no asthma; hyperphagia; eats good variety foods/textures; constipation; no renal anomalies; no genitourinary problems; no hematologic problems; Seem by Endo at RCH; above % charts for both height and weight; lost 20kg in a year, high BMI; involved in study related to diabetes, does not have diabetes; no longer linked in with Endo at RCH; no musculoskeletal problems; no immunological problems; acne; anxiety, depression; no facial dysmorphism; normal hands, normal feet; obesity |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
11y9m (11 years, 9 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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