Search Ontology:
Human Disease
autosomal recessive Robinow syndrome 2
- Term ID
- DOID:0060974
- Synonyms
-
- Definition
- A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/29276006/
- References
- Ontology
- Human Disease ( DOID:0060974 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models
Citations