Disease association ontology term - MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome
Term summary
- ID
- MONDO:0010610
- Name
- holoprosencephaly-hypokinesia-congenital contractures syndrome
- Ontology or CV name
- Disease association
- 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.
