Phenotype #0000359935
| Individual ID |
00475222 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder, joint hypermobility |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., full-term pregnancy, cesarean section; motor delay; hypotonia (infancy); sit delayed; 2y11m-walk; speech delay; intellectual disabilit; anguage delays; attention deficit hyperactive disorder; hypotonia; no seizures; joint hypermobility; no limb contractures; no skin laxity; scoliosis; no blue sclera; facial asymmetry, torticollis left side, depressed nasal bridge, minimal coarse facial features with nasal congestion, intact posterior angulated auricles, short neck, chest revealed retrosternal indrawing ; patent ductus arteriosus, atrial septal defect, ventricular septal defect ; 3y-MRI brain lobal volume loss with cerebellar inferior vermian hypoplasia with incidental cervical findings; umbilical hernia, skeletal deformities, progressive thoracic scoliosis, abnormal skull shape |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y (11 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 |
2026-04-04 15:14:06 +02:00 (CEST) |
| Date last edited |
N/A |
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