CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 14 |
| OrphanetNr: | |
| OMIM Id: |
607674
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000618) | Blindness | 124 / 7739 | ||||
|
|
(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
|
|
(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
|
|
(HPO:0002072) | Chorea | 53 / 7739 | ||||
|
|
(HPO:0100543) | Cognitive impairment | 230 / 7739 | ||||
|
|
(HPO:0000751) | Personality changes | 33 / 7739 | ||||
|
|
(HPO:0000726) | Dementia | 131 / 7739 | ||||
|
|
(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
|
|
(HPO:0000712) | Emotional lability | 44 / 7739 | ||||
|
|
(HPO:0000709) | Psychosis | 61 / 7739 | ||||
|
|
(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
|
|
(OMIM) | Atrophy of hippocampal dentate gyrus | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Alpha-B-crystallin expression in oligodendrocytes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Hudson and Munoz (1997) reported a family with an autosomal dominant neurologic syndrome affecting 7 members over 2 generations. The mother and 6 of her 11 offspring had congenital cataracts. Several members had impaired intellect, and 1 was ... |