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X-linked intellectual disability with marfanoid habitus

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Uniprot Description Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
Mondo Term and Equivalent IDs
MONDO:0010655:  X-linked intellectual disability with marfanoid habitus
GARD:0003307: 
MESH:C537724: 
Orphanet:776: 
SCTID:422437002: