Phenotype #0000110007
| Individual ID |
00137259 |
| Associated disease |
MD |
| Phenotype details |
pregnancy advanced maternal age (41y), exposure drugs/alcohol, mother cognitively impaired (dysmorphic facial features); born 29w (emergency cesarean delivery, fetal compromise and breech position),
hypotonic, facial features similar Down syndrome (flat midface, epicanthal folds, periorbital edema), weight 794g; 18m-hypotonia, dysmorphic features (wide spaced eyes, flat nasal bridge); 22m-developmentally delayed, persistent hypotonia, speech delay, macroglossia; muscle biopsy early dystrophic pattern, myopathic grouping of regenerating fibers; elevated serum CPK (HP:0003236) 2,583 U/L; motor ability able to 22m, walk 27m |
| Diagnosis/Initial |
dystrophy, muscular, atypical |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
18m |
| Phenotype/Onset |
- |
| Protein |
WB DMD, DYSF, CAPN3 normal, DAG1 decreased, IHC DMD normal |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2010-09-10 19:44:56 +02:00 (CEST) |
| Date last edited |
2012-03-09 19:08:25 +01:00 (CET) |
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