You are using an outdated browser. Please upgrade your browser to improve your experience.
This repository is under review for potential modification in compliance with Administration directives.
48,XYYY syndrome
Disease Summary
Associated Targets ()
Mondo Description 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0011985
Orphanet:99329
SCTID:733625003
UMLS:C4518082
UMLS:CN207331
MONDO:0020469
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.