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holoprosencephaly-hypokinesia-congenital contractures syndrome

Disease Summary
Associated Targets ()

Mondo Description Holoprosencephaly-hypokinesia syndrome is 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.
Mondo Term and Equivalent IDs
MONDO:0010610:  holoprosencephaly-hypokinesia-congenital contractures syndrome
GARD:0003788: 
MESH:C564409: 
Orphanet:2570: 
SCTID:716169009: