Details of Disease

General Information of Disease (ID: DISJS2FU)

Disease Name Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Synonyms INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS
Disease Hierarchy
DISYKSRF: Genetic disease
DISJS2FU: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Disease Identifiers
MONDO ID
MONDO_0032687
UMLS CUI
C5193039
OMIM ID
618342
MedGen ID
1675423

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
PUS7 OTE5AQHJ 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.