Metadata | |
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ID | DOID:0060830 |
Name | deafness-intellectual disability, Martin-Probst type syndrome |
Definition | A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. https://www.ncbi.nlm.nih.gov/pubmed/11073537 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Martin-Probst syndrome [EXACT] mental retardation, X-linked, syndromic, Martin-Probst type [EXACT] |
Parent Relationships |