Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B80949d7aaedf4e67efc17a8b683c7762> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B80949d7aaedf4e67efc17a8b683c7762 hasDbXref "Orphanet:2429" @default.
- B80949d7aaedf4e67efc17a8b683c7762 type Axiom @default.
- B80949d7aaedf4e67efc17a8b683c7762 annotatedProperty IAO_0000115 @default.
- B80949d7aaedf4e67efc17a8b683c7762 annotatedSource MONDO_0010858 @default.
- B80949d7aaedf4e67efc17a8b683c7762 annotatedTarget "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." @default.