Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:40
Name:46,XY Sex Reversal 4
Definition:
Alternative IDs:OMIM:154230
ParentIDs:MESH:D006061
TreeNumbers:C12.706.316.096.687/C567887 |C12.706.316.309.388/C567887 |C13.351.875.253.096.687/C567887 |C13.351.875.253.309.388/C567887 |C16.131.939.316.096.687/C567887 |C16.131.939.316.309.388/C567887 |C19.391.119.096.687/C567887 |C19.391.119.309.388/C567887
Synonyms:46,Xy Gonadal Dysgenesis, Complete Or Partial, With 9p24.3 Deletion |Chromosome 9p24.3 Deletion Syndrome |SRXY4
Slim Mappings:Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C567887
MeSH: C567887
OMIM: 154230;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000133Gonadal dysgenesis
3 HP:0012245Sex reversal
Disease Causing ClinVar Variants