CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 215480
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:0000486) Strabismus 576 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0003487) Babinski sign 179 / 7739
4
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
5
 (HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0002922) Increased CSF protein 27 / 7739
8
 (HPO:0006960) Choroid plexus calcification 5 / 7739
9
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
10
 (HPO:0001608) Abnormality of the voice 126 / 7739
11
 (OMIM) 'Lalling' speech 1 / 7739
12
 (OMIM) Failure of choroid plexus to take up radiolabeled (99m) Tc-pertechnetate 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: