General Information of Disease (ID: DISN3DUL)

Disease Name Intellectual developmental disorder, X-linked 108
Synonyms INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; Mental Retardation, X-Linked 108; MRX108; intellectual developmental disorder, X-linked 108, X-linked recessive
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DISN3DUL: Intellectual developmental disorder, X-linked 108
Disease Identifiers
MONDO ID
MONDO_0026723
UMLS CUI
C5193009
OMIM ID
301024
MedGen ID
1680544

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC9A7 DTQPK6R Strong X-linked [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC9A7 OTVDLTYA Strong X-linked [1]
------------------------------------------------------------------------------------

References

1 A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Hum Mol Genet. 2019 Feb 15;28(4):598-614. doi: 10.1093/hmg/ddy371.