Disease association ontology term - MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type
Term summary
- ID
- MONDO:0010407
- Name
- intellectual disability, X-linked syndromic, Turner type
- Ontology or CV name
- Disease association
- Definition
- An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
