Phenotype #0000228811
| Individual ID |
00301713 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
global developmental delay, microcephaly (head circumference 41.5 cm at 4 yrs and 42.5 at age 11). Best motor milestone achieved was sitting unsupported. She has brisk deep tendon reflexes with clonus. She has unique redness or erythema of the feet and hands secondary to probably autonomic dysfunction. The limbs also are cold on examination. Raynaud's phenomenon was not noted, however. She has profound language delay, vision is unaffected. She has motor weakness affecting lower extremities more than upper ones with joint contractures evolving later with finger flexor contractures, elbow contractures. She has good social/eye contact but has stereotypes with hand clapping and shaking. No seizures. Her clinical course was relatively static with no clear regression. Her CK was elevated. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-22 17:20:34 +02:00 (CEST) |
| Date last edited |
N/A |
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