Phenotype #0000227563
| Individual ID |
00300262 |
| Associated disease |
SRTD |
| Diagnosis/Initial |
short rib polydactyly syndrome |
| Diagnosis/Definite |
SRTD7 |
| Phenotype details |
22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the hands |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
<0d |
| 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 |
2020-04-25 19:30:00 +02:00 (CEST) |
| Date last edited |
N/A |
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