Details of Disease

General Information of Disease (ID: DISUYF1P)

Disease Name Developmental and epileptic encephalopathy 105 with hypopituitarism
Synonyms DEE105; developmental and epileptic encephalopathy 105 with hypopituitarism
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISUYF1P: Developmental and epileptic encephalopathy 105 with hypopituitarism
Disease Identifiers
MONDO ID
MONDO_0031028
UMLS CUI
C5774190
OMIM ID
619983
MedGen ID
1823963

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
HID1 OTVJIFSU Strong Autosomal recessive [1]
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References

1 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.