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X-linked intellectual disability with marfanoid habitus
rareThe 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.
- Identifiers
- MONDO:0010655 OMIM:309520Orphanet:776
- Part of
- MED12-related intellectual disability syndromeCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Lujan syndrome · Lujan-Fryns syndrome · Lujan-Fryns syndrome, X-linked recessive · Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies · mental retardation, X-linked, with Marfanoid habitus
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