holoprosencephaly-hypokinesia-congenital contractures syndrome
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:0002320
congenital nervous system disorder
is_a
MONDO:0020022
central nervous system malformation
is_a
Morse-Rawnsley-Sargent syndrome
exact
holoprosencephaly with foetal akinesia/hypokinesia sequence
related
holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome
exact
SPBC3B9.02c