Details of Disease

General Information of Disease (ID: DISNHYD0)

Disease Name Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Synonyms microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome; MFRG
Disease Hierarchy
DISYKSRF: Genetic disease
DISNHYD0: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Disease Identifiers
MONDO ID
MONDO_0020647
UMLS CUI
C4748348
OMIM ID
618142
MedGen ID
1648412

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
CTU2 OT323X9J Strong Autosomal recessive [1]
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References

1 Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34. Hum Mutat. 2019 Nov;40(11):2108-2120. doi: 10.1002/humu.23870. Epub 2019 Jul 29.