Phenotype #0000171437
| Individual ID |
00226314 |
| Associated disease |
MFM |
| Phenotype details |
infantile onset hypotonia, 13m-walk, stable strength, difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); joint hypermobility (HP:0001382) mild at elbow, wrist, and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); no dysphagia (-HP:0002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; no pectus excavatum (-HP:0000767); mild asymmetric scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); no cardiac disease; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization |
| Diagnosis/Initial |
myofibrillar myopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
MFM-8 |
| Age/Examination |
07y (7 years) |
| Age/Onset |
- |
| Phenotype/Onset |
hypotonia |
| 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 08:58:35 +01:00 (CET) |
| Date last edited |
2019-03-08 09:09:49 +01:00 (CET) |
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