Details of Disease

General Information of Disease (ID: DISZGEKL)

Disease Name Holoprosencephaly-hypokinesia-congenital contractures syndrome
Synonyms
holoprosencephaly with foetal akinesia/hypokinesia sequence; holoprosencephaly with fetal akinesia/hypokinesia sequence; holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome; Morse-Rawnsley-Sargent syndrome
Definition
An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISOV08L: Central nervous system malformation
DISZGEKL: Holoprosencephaly-hypokinesia-congenital contractures syndrome
Disease Identifiers
MONDO ID
MONDO_0010610
MESH ID
C564409
UMLS CUI
C1844016
OMIM ID
306990
MedGen ID
336097
Orphanet ID
2570

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
GPKOW OTGS3H0M Limited X-linked [1]
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References

1 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.