Juberg-Marsidi syndrome

Preferred Label : Juberg-Marsidi syndrome;

ICD-11 definition : Juberg-Marsidi syndrome is an X-linked intellectual deficit (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies.;

Details

Origin ID

1481329092;

Currated CISMeF NLP mapping
- Intellectual disability-hypotonic facies syndrome, X-linked, 1 [OMIM Phenotype]
- Juberg Marsidi syndrome (disorder) [SNOMED CT concept]
- Juberg-Marsidi syndrome [ORDO Disease]
- mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Intellectual developmental disorder, X-linked, syndromic, turner type [OMIM Phenotype]

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