Disease #01126

Official abbreviation MRXSN
Name mental retardation, X-linked syndromic, Nascimento-type (MRXSN)
OMIM ID 300860
Human Phenotype Ontology Project (HPO) HPO
Inheritance XLR
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene UBE2A
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00301513 FamPat1 PubMed: Giugliano 2018 2-generation family, 2 affected brothers, unaffected carrier mother M ? Italy - - 0 - - MRXSN - UBE2A UBE2A 1 2 Giulio Piluso
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