Clinical Signs and Symptoms
ORPHA:588 Muscle-eye-brain disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Cognitive impairment HP:0100543
- EEG abnormality HP:0002353
- EMG abnormality HP:0003457
- Elevated circulating creatine kinase concentration HP:0003236
- Gait disturbance HP:0001288
- Glaucoma HP:0000501
- Hydrocephalus HP:0000238
- Myopathy HP:0003198
- Myopia HP:0000545
- Neurological speech impairment HP:0002167
- Optic atrophy HP:0000648
- Strabismus HP:0000486
- Visual impairment HP:0000505
Very frequent
- Abnormality of movement HP:0100022
- Abnormality of the voice HP:0001608
- Cataract HP:0000518
- Hypertonia HP:0001276
- Hypotonia HP:0001252
- Seizure HP:0001250
Frequent
- Aplasia/Hypoplasia of the cerebellum HP:0007360
- Hemiplegia/hemiparesis HP:0004374
- Holoprosencephaly HP:0001360
- Meningocele HP:0002435
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.