Genomics England
GMS Panels
Panels
Genes and Entities

DHH

desert hedgehog
OMIM: 605423
PanelMode of inheritanceDetails
2 panels
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080, 46XY sex reversal 7, 233420
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080, 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766