Phenotype #0000319122
| Individual ID |
00428210 |
| Associated disease |
CPHD |
| Diagnosis/Initial |
combined pituitary hormone deficiency |
| Diagnosis/Definite |
CPHD3 |
| Phenotype details |
see paper; ..., birth 41w+2, vaginal induction, weight 3250g, length 47cm; congenital hip subluxation; myopia; 7y-scoliosis; 11y-scoliosis surgery; persistent ductus arteriosus, pulmonary stenosis (spontaneous recovered); deficient in GH, prolactin, TSH, FSH, and LH |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| 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 |
2022-12-24 13:04:53 +01:00 (CET) |
| Date last edited |
N/A |
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