Phenotype #0000015267
| Individual ID |
00016889 |
| Associated disease |
ID |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Inheritance |
Familial, X-linked dominant |
| Phenotype details |
21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin. |
| Age/Examination |
01y09m (1 year, 9 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Marianne Vos (LOVD-team) |
| Database submission license |
No license selected |
| Created by |
Marianne Vos (LOVD-team) |
| Date created |
2014-06-05 16:59:03 +02:00 (CEST) |
| Date last edited |
2016-06-19 10:13:32 +02:00 (CEST) |
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