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Metadata
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

ICD10CM:Q87.8

OMIM:300519

ORDO:85321

Subsets

DO_rare_slim

Synonyms

Martin-Probst syndrome [EXACT]

mental retardation, X-linked, syndromic, Martin-Probst type [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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