Clinical Signs and Symptoms
ORPHA:77299 Microphthalmia-brain atrophy syndrome
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.
- Bilateral microphthalmos HP:0007633
- Blindness HP:0000618
Very frequent
- Atrophy/Degeneration affecting the brainstem HP:0007366
- Corpus callosum atrophy HP:0007371
- Developmental regression HP:0002376
- Diffuse cerebral atrophy HP:0002506
- Diffuse demyelination of the cerebral white matter HP:0007162
- Dilation of lateral ventricles HP:0006956
- Inappropriate crying HP:0030215
- Microcephaly HP:0000252
- Multifocal seizures HP:0031165
- Spasticity HP:0001257
- Vomiting HP:0002013
Frequent
- Abnormality of the pons HP:0007361
- Cerebellar vermis atrophy HP:0006855
- Generalized myoclonic seizures HP:0002123
- Generalized-onset seizure HP:0002197
- Hyperkinetic seizures HP:0011174
- Tongue thrusting HP:0100703
- Vegetative state HP:0031358
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.