General Information of Disease (ID: DISJ5VJQ)

Disease Name Intellectual disability, autosomal recessive 63
Synonyms MRT63; mental retardation, autosomal recessive 63; intellectual disability, autosomal recessive 63
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISJ5VJQ: Intellectual disability, autosomal recessive 63
Disease Identifiers
MONDO ID
MONDO_0054861
UMLS CUI
C4748167
OMIM ID
618095
MedGen ID
1648348

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
CAMK2A OTJGX19T Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.