Clinical Signs and Symptoms
ORPHA:98673 Autosomal dominant optic atrophy, classic form
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.
- Abnormality of the periventricular white matter HP:0002518
- Areflexia HP:0001284
- Atrophy/Degeneration affecting the brainstem HP:0007366
- Basal ganglia calcification HP:0002135
- Cataract HP:0000518
- Cerebellar atrophy HP:0001272
- Cognitive impairment HP:0100543
- Corpus callosum atrophy HP:0007371
- Dementia HP:0000726
- Diabetes mellitus HP:0000819
- Duane anomaly HP:0009921
- Dysphagia HP:0002015
- Fatigue HP:0012378
- Feeding difficulties HP:0011968
- Global developmental delay HP:0001263
- Hallucinations HP:0000738
- Hemiparesis HP:0001269
- Hypogonadism HP:0000135
- Hypothyroidism HP:0000821
- Macrocytic anemia HP:0001972
- Migraine HP:0002076
- Myalgia HP:0003326
- Nystagmus HP:0000639
- Pes cavus HP:0001761
- Scapular winging HP:0003691
- Seizures HP:0001250
- Skeletal muscle atrophy HP:0003202
- Spastic paraplegia HP:0001258
- Spasticity HP:0001257
- Weakness of facial musculature HP:0030319
Specialised Social Services
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.