Details of Disease | DrugMAP

General Information of Disease (ID: DIS7CVVV)

Disease Name	Microcephaly, seizures, and developmental delay
Synonyms	EIEE10; MCSZ; early infantile epileptic encephalopathy-10; microcephaly - seizures - developmental delay; epileptic encephalopathy, early infantile, 10; microcephaly, seizures, and developmental delay
Disease Hierarchy	DIS2GRD8: Microcephaly DISZOCA3: Epileptic encephalopathy DIS7CVVV: Microcephaly, seizures, and developmental delay
Disease Identifiers	MONDO ID MONDO_0013254 UMLS CUI C3150667 OMIM ID 613402 MedGen ID 462017

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNKP	TTHR3IE	Limited	Genetic Variation	[1]
PNKP	TTHR3IE	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNKP	OTXJNXVW	Definitive	Autosomal recessive	[2]
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References

1	Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.Brain Dev. 2019 Feb;41(2):182-186. doi: 10.1016/j.braindev.2018.08.005. Epub 2018 Sep 5.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.