Phenotype #0000171436
| Individual ID |
00226313 |
| Associated disease |
MFM |
| Phenotype details |
onset 10y, still ambulant 31y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial; P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); micrognathia and retrognathia (HP:0000308); no dysphagia (-HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 4x; histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods |
| Diagnosis/Initial |
myofibrillar myopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
MFM-8 |
| Age/Examination |
31y (31 years) |
| Age/Onset |
10y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2019-03-08 08:49:39 +01:00 (CET) |
| Date last edited |
N/A |
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