Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Lujan-Fryns syndrome
Synonyms

X-linked intellectual disability with marfanoid habitus
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_776
alternative_term

X-linked intellectual disability with marfanoid habitus
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=776
has_age_of_onset

Infancy

Neonatal
has_inheritance

X-linked recessive
hasDbXref

UMLS:C0796022

ICD-10:Q87.8

MeSH:C537724

OMIM:309520

OMIM:300799
label

Lujan-Fryns syndrome
notation

ORPHA:776
part_of

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283
prefixIRI

ORDO:Orphanet_776
prefLabel

Lujan-Fryns syndrome
present_in

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493
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