X-linked intellectual deficit with marfanoid habitus

Preferred Label : X-linked intellectual deficit with marfanoid habitus;

ICD-11 definition : X-linked intellectual deficit with marfanoid habitus or Lujan-Fryns syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.;

Détails

Origin ID

465666968;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type [OMIM Phenotype]
- Lujan Fryns syndrome [MeSH concept]
- Lujan-Fryns syndrome [ORDO Disease]
- lujan fryns syndrome [MeSH Supplementary Concept]

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