Disease #01126 (MRXSN (mental retardation, X-linked syndromic, Nascimento-type (MRXSN)), OMIM:300860)

Official abbreviation MRXSN
Name mental retardation, X-linked syndromic, Nascimento-type (MRXSN)
OMIM ID 300860
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene UBE2A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-05-18 13:47:35 +02:00 (CEST)


Individuals

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00301513 FamPat1 PubMed: Giugliano 2018 2-generation family, 2 affected brothers, unaffected carrier mother M ? Italy - - - - - MRXSN - UBE2A UBE2A 1 2 Giulio Piluso
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