VLDLR-associated cerebellar hypoplasia
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:cerebellar_hypoplasia
genetic disorder |
| gptkbp:affects |
gptkb:cerebellum
|
| gptkbp:causedBy |
mutation in VLDLR gene
|
| gptkbp:containsGene |
gptkb:VLDLR
|
| gptkbp:firstDescribed |
2005
|
| gptkbp:hasICD10 |
Q04.3
|
| https://www.w3.org/2000/01/rdf-schema#label |
VLDLR-associated cerebellar hypoplasia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
224050
|
| gptkbp:symptom |
intellectual disability
cerebellar ataxia dysarthria delayed motor development |
| gptkbp:synonym |
cerebellar hypoplasia with quadrupedal locomotion
dysequilibrium syndrome type 1 |
| gptkbp:bfsParent |
gptkb:VLDLR
|
| gptkbp:bfsLayer |
7
|