X-linked calvarial hyperostosis
Also known as: calvarial hyperostosis, isolated hyperostosis of the calvarium
Also known as: calvarial hyperostosis, isolated hyperostosis of the calvarium
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
Also known as: X-linked hereditary ataxia, cerebellar ataxia, X-linked, hereditary ataxia, X-linked
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
Also known as: X-linked cerebral-cerebellar-coloboma syndrome, X-linked intellectual disability, Kroes type, cerebral-cerebellar-coloboma syndrome, X-linked, cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive
Also known as: CPXD, X-linked dominant chondrodysplasia punctata, chondrodysplasia punctata, X-linked, chondrodysplasia punctata, X-linked dominant, chondrodystrophia calcificans congenita
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
Also known as: MCOPS13, Maine microphthalmos, X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome, colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, microphthalmia, syndromic 13, microphthalmia, syndromic type 13
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
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