deafness-intellectual disability, Martin-Probst type syndrome

Term ID

DOID:0060830

Synonyms

• Martin-Probst syndrome
• mental retardation, X-linked, syndromic, Martin-Probst type

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

References

• ICD10CM:Q87.8
• OMIM:300519
• ORDO:85321

Ontology

Human Disease   ( DOID:0060830 )