Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfd348329ffd376b0708391773f156b8b> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bfd348329ffd376b0708391773f156b8b hasDbXref "Orphanet:3369" @default.
- Bfd348329ffd376b0708391773f156b8b type Axiom @default.
- Bfd348329ffd376b0708391773f156b8b annotatedProperty IAO_0000115 @default.
- Bfd348329ffd376b0708391773f156b8b annotatedSource MONDO_0010749 @default.
- Bfd348329ffd376b0708391773f156b8b annotatedTarget "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." @default.