- developmental and epileptic encephalopathy 46 [DOID:0080456]
A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
- spermatogenic failure 46 [DOID:0112164]
A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2.
- immunodeficiency 46 [DOID:0111948]
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
- 46,XY sex reversal [DOID:14448]
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.