Term ID: | 4908 |
Name: | Haspeslagh Fryns Muelenaere syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008607|MESH:D011625|MESH:D019066|MESH:D019465 |
TreeNumbers: | C05.660.207/C535844 |C10.597.606.643/C535844 |C11.187.781/C535844 |C16.131.621.207/C535844 |C23.550.291.812/C535844 |C23.888.592.604.646/C535844 |F03.550.600/C535844 |
Synonyms: | Distinctive craniofacial features with Pterygia and mental retardation |Haspeslagh syndrome |Mental retardation with pterygia, shortness and distinct facial appearance |Pterygia, Mental Retardation, And Distinctive Craniofacial Features |
Slim Mappings: | Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C535844
MeSH: C535844
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |