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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:9860
Name:Richieri Costa Guion-Almeida syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005532|MESH:D006228|MESH:D008342
TreeNumbers:C05.116.099.370.231.576/C535676 |C05.330.495/C535676 |C05.390.408/C535676 |C05.660.207.231.576/C535676 |C05.660.585.512.380/C535676 |C05.660.585.988.425/C535676 |C16.131.621.207.231.576/C535676 |C16.131.621.585.380/C535676 |C16.131.621.585.425/C535676
Synonyms:Acrofacial dysostosis Richieri Costa Guion-Almeida type |Richieri-Costa Guion-Almeida Cohen syndrome |Richieri Costa Guion-Almeida dwarfism
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C535676
MeSH: C535676
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants