CONE-ROD DYSTROPHY 1

General Information (adopted from Orphanet):

Synonyms, Signs: CRD1
CORD1
Number of Symptoms 11
OrphanetNr:
OMIM Id: 600624
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
3
 (HPO:0000598) Abnormality of the ear 98 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
 (HPO:0011463) Childhood onset 65 / 7739
7
 (HPO:0003621) Juvenile onset 105 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Central postsynaptic hearing impairment 1 / 7739
10
 (OMIM) Cone-rod dystrophy by electrophysiology 1 / 7739
11
 (OMIM) Deletion of 18q21.1-qter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: