Human genes for endocrine-cerebro-osteodysplasia syndrome
Endocrine-cerebro-osteodysplasia syndrome [DOID:0060641]
A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
Synonyms: endocrine-cerebro-osteodysplasia syndrome, DOID:0060641, endocrinecerebroosteodysplasia syndrome, endocrine-cerebro-osteodysplasia disease, endocrine-cerebro-osteodysplasia disorder ...