General Information of Disease (ID: DISLCY02)

Disease Name Intellectual developmental disorder, autosomal recessive 72
Synonyms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72; Mental Retardation, Autosomal Recessive 72
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISLCY02: Intellectual developmental disorder, autosomal recessive 72
Disease Identifiers
MONDO ID
MONDO_0032860
UMLS CUI
C5231452
OMIM ID
618665
MedGen ID
1684805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
METTL5 OTR0OO41 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26.