Phenotype #0000356832
| Individual ID |
00472023 |
| Associated disease |
ID |
| Diagnosis/Initial |
intelleellectual disabilityctual disability |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, autosomal dominant |
| Phenotype details |
see paper; ..., 28wg-premature contractions; birth weight 2340g; developmental delay, learning problems; no motor delay; language delay, dyslexia; height -0.9SD, OFC 0SD; attention deficit hyperactivity disorder, autism spectrum disorder; no epilepsy; no hypotonia (childhood); congenital diaphragmatic hernia, ventricular septal defect, umbilical and inguinal hernia; neonatal feeding difficulties, mainly in context of CHD; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; no thin upper lip vermillion; wide mouth; pointed chin; high nasal bridge, slight hypertelorism |
| Age/Examination |
7y (7 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-01-05 20:42:40 +01:00 (CET) |
| Date last edited |
N/A |
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