Additional Disease Briefs



X-linked central congenital hypothyroidism with late-onset testicular enlargement

Also known as: CHTE, IGSF1 deficiency syndrome, Immunoglobulin superfamily member 1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement, central hypothyroidism and testicular enlargement, hypothyroidism Central and testicular enlargement, hypothyroidism, central, and testicular enlargement, hypothyroidism, central, and testicular enlargement, X-linked recessive



X-linked cerebral adrenoleukodystrophy

Also known as: ALD, ALD childhood cerebral form, Addison disease and cerebral sclerosis, Siemerling-Creutzfeldt disease, X-linked cerebral adrenoleukodystrophy, adrenoleukodystrophy, adrenoleukodystrophy X-linked cerebral form, adrenoleukodystrophy childhood cerebral form, adrenomyeloneuropathy, bronze Schilder disease, childhood cerebral ALD, childhood-onset cerebral X-linked adrenoleukodystrophy, melanodermic leukodystrophy



X-linked chondrodysplasia punctata

Also known as: CPXD, X-linked dominant chondrodysplasia punctata, chondrodysplasia punctata, X-linked, chondrodysplasia punctata, X-linked dominant, chondrodystrophia calcificans congenita


X-linked chondrodysplasia punctata 1

Also known as: ARSE X-linked chondrodysplasia punctata, CDPX1, CPXR, Cpxr, X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata caused by mutation in ARSE, X-linked chondrodysplasia punctata caused by mutation in arse, arse X-linked chondrodysplasia punctata, arylsulfatase E deficiency, brachytelephalangic chondrodysplasia punctata, chondrodysplasia punctata 1 X-linked recessive, chondrodysplasia punctata 1, X-linked recessive, chondrodysplasia punctata brachytelephalangic, chondrodysplasia punctata, Brachytelephalangic, chondrodysplasia punctata, X-linked recessive, X-linked recessive, chondrodysplasia punctata, brachytelephalangic



X-linked complicated corpus callosum dysgenesis

Also known as: X-linked complicated corpus callosum agenesis, X-linked partial agenesis of corpus callosum, X-linked partial corpus callosum agenesis, corpus callosum, partial agenesis of, X-linked, corpus callosum, partial agenesis of, X-linked recessive