Visualize
Metadata
DOID DOID:0050536
Name SC phocomelia syndrome
Definition An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene.
https://www.omim.org/entry/269000
Synonyms

Hypomelia Hypotrichosis Facial hemangioma syndrome [EXACT]

SC PSEUDOTHALIDOMIDE SYNDROME [EXACT]

Xrefs

OMIM:269000

Relationships

is_a autosomal recessive disease

Add an item to the term tracker