Disease #03196

Official abbreviation BCYM-4
Name brachyolmia, type 4, with mild epiphyseal and metaphyseal changes (BCYM-4, spondyloepimetaphyseal dysplasia, Pakistani type)
OMIM ID 612847
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene PAPSS2
Associated tissues -
Disease features autosomal recessive
Remarks -