Metadata | |
---|---|
ID | DOID:0060378 |
Name | orofaciodigital syndrome VIII |
Definition | An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 |
Xrefs |
SNOMEDCT_US_2023_03_01:722106001 |
Subsets |
DO_rare_slim |
Synonyms |
OFD8 [EXACT] |
Parent Relationships |