Phenotype #0000350048
| Individual ID |
00462570 |
| Associated disease |
SCKL |
| Diagnosis/Initial |
SCKL |
| Diagnosis/Definite |
SCKL1 |
| Phenotype details |
see paper; ..., birth weight 0.77kg, OFC 24.2cm; 4y6m weight -7 SD, height -8 SD, OFC -10 SD; micrognathia, blepharophimosis, short palpebral fissures, prominent nose, high nasal bridge, high anterior hairline; dental crowding; small ears, no lobes; bilateral 5th finger clinodactyly, 5th metacarpels appear short, blue colouration to both thenar eminence;s ymmetric dwarfism; copper beaten skull; 4y-no ossification patellae; marked hip/shoulder flexibility; no kyphosis; MRI 2y-abnormal gyration posterior aspect cingulated gyrus extending into thparietal occipital region, hypoplastic corpus collasum; normal skin pigmentation; developmental delay, 15m-sit, 3y10m-wal; high pitched voice, asthma, multiple chest infections, feeding difficulties-reflux (gastrostomy fed); 17m-multiple liver cysts consistent with Caroli's disease |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
04y06m (4 years, 6 months) |
| 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 |
2025-02-13 17:39:46 +01:00 (CET) |
| Date last edited |
2025-02-13 17:55:43 +01:00 (CET) |
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