Clinical Signs and Symptoms
ORPHA:401777 Optic atrophy-intellectual disability 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.
- Abnormal facial shape HP:0001999
- Autistic behavior HP:0000729
- Global developmental delay HP:0001263
- Hypoplasia of the corpus callosum HP:0002079
- Intellectual disability HP:0001249
- Muscular hypotonia HP:0001252
- Optic atrophy HP:0000648
- Reduced visual acuity HP:0007663
- Seizures HP:0001250
Frequent
- Abnormality of the helix HP:0011039
- Absent speech HP:0001344
- Amblyopia HP:0000646
- Anteverted nares HP:0000463
- Attention deficit hyperactivity disorder HP:0007018
- Cerebral visual impairment HP:0100704
- Epicanthus HP:0000286
- Esotropia HP:0000565
- Exotropia HP:0000577
- Hearing impairment HP:0000365
- Obsessive-compulsive behavior HP:0000722
- Optic disc hypoplasia HP:0007766
- Optic nerve hypoplasia HP:0000609
- Prominent nasal bridge HP:0000426
- Protruding ear HP:0000411
- Repetitive compulsive behavior HP:0008762
- Short nasal bridge HP:0003194
- Strabismus HP:0000486
- Tapered finger HP:0001182
- Upslanted palpebral fissure HP:0000582
- Visual field defect HP:0001123
Occasional
- Abnormal morphology of the hippocampus HP:0025100
- Delayed myelination HP:0012448
- Delayed skeletal maturation HP:0002750
- Hypermetropia HP:0000540
- Keratoconus HP:0000563
- Myopia HP:0000545
- Nystagmus HP:0000639
- Short stature HP:0004322
- Spasticity HP:0001257
Rare
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.