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Holoprosencephaly-hypokinesia-congenital contractures syndrome
rareAn 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.
- Identifiers
- MONDO:0010610 OMIM:306990Orphanet:2570
- Also known as
- holoprosencephaly with foetal akinesia/hypokinesia sequence · holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome · Morse-Rawnsley-Sargent syndrome
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