3billion
back to listBack to List

WDR62

WD repeat domain 62

HCNC Approved Symbol
WDR62 (HGNC:24502)
Genomic Coordinates
19:36,054,897 - 36,111,145 (19q13.12)
Synonyms
DKFZP434J046, FLJ33298, C19orf14, MCPH2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
604317AR

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the WDR62 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Microcephaly
 7 (58.3%)
Pachygyria
 5 (41.7%)
Congenital microcephaly
 3 (25.0%)
Thin corpus callosum
 2 (16.7%)
Neurodevelopmental delay
 
1 (8.3%)