Details of Disease

General Information of Disease (ID: DISUZJIM)

Disease Name Short stature and microcephaly with genital anomalies
Synonyms SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
Disease Hierarchy
DISYKSRF: Genetic disease
DISUZJIM: Short stature and microcephaly with genital anomalies
Disease Identifiers
MONDO ID
MONDO_0032875
UMLS CUI
C5231467
OMIM ID
618702
MedGen ID
1684791

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
CENPT OTB8MAVF Limited Autosomal recessive [1]
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References

1 A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017 Dec 11;12(12):e0189324. doi: 10.1371/journal.pone.0189324. eCollection 2017.