MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 609438
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000572) Visual loss 272 / 7739
2
 (HPO:0000618) Blindness 124 / 7739
3
 (HPO:0000563) Keratoconus 25 / 7739
4
 (HPO:0010864) Intellectual disability, severe 120 / 7739
5
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
6
 (HPO:0002373) Febrile seizures 37 / 7739
7
 (HPO:0011710) Bundle branch block 14 / 7739
8
 (HPO:0011675) Arrhythmia 226 / 7739
9
 (HPO:0001678) Atrioventricular block 59 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (HPO:0012723) Sinoatrial block 4 / 7739
12
 (OMIM) Keratoconus, bilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: