Additional Disease Briefs

X-linked hereditary sensory and autonomic neuropathy with hearing loss

Also known as: DFNX5, X-linked HSAN with deafness, X-linked auditory neuropathy with peripheral sensory neuropathy type 1, X-linked hereditary sensory and autonomic neuropathy with deafness, X-linked hereditary sensory and autonomic neuropathy with hearing loss, auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy, deafness, X-linked 5, deafness, X-linked 5, X-linked recessive

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

Also known as: Bickers-Adams syndrome, HSAS, HSAS1, HYCX, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, XLAS, aqueductal stenosis, X-linked, hydrocephalus due to aqueductal stenosis, X-linked recessive, hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive, hydrocephalus with hirschsprung disease, X-linked recessive, hydrocephalus with stenosis of the aqueduct of Sylvius, hydrocephalus, X-linked, hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction

X-linked hypohidrotic ectodermal dysplasia

Also known as: CST syndrome, Christ-Siemens-Touraine syndrome, Eda1, X-linked anhidrotic ectodermal dysplasia, X-linked hypohidrotic ectodermal dysplasia, XHED, Xlhed, anhidrotic ectodermal dysplasia X-linked, ectodermal dysplasia 1, ectodermal dysplasia 1, hypohidrotic, X-linked, ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive, ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked, ectodermal dysplasia, anhidrotic, X-linked, ectodermal dysplasia, hypohidrotic, 1, hypohidrotic ectodermal dysplasia X-linked, hypohidrotic ectodermal dysplasia, X-linked

X-linked ichthyosis syndrome

Also known as: X-linked inherited ichthyosis syndromic form, inherited ichthyosis syndromic form, X-linked

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Also known as: Cid due to MAGT1 deficiency, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia, X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia, XMEN, combined immunodeficiency due to MAGT1 deficiency, immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia, immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive

X-linked immunoneurologic disorder

Also known as: Woods Black Norbury syndrome, Woods-Black-Norbury syndrome, Woods-Black-Norbury syndrome, X-linked dominant, X-linked immunoneurological disorder, immunoneurologic disorder, X-linked, neonatal death immune deficiency

X-linked intellectual disability with hypopituitarism

X-linked intellectual disability with isolated growth hormone deficiency

Also known as: MRGH

X-linked intellectual disability with marfanoid habitus

Also known as: LUJAN-Fryns syndrome, Lujan syndrome, Lujan-Fryns syndrome, Lujan-Fryns syndrome, X-linked recessive, Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies, intellectual disability, X-linked, with Marfanoid habitus, mental retardation, X-linked, with Marfanoid habitus

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Also known as: MRXS32, intellectual developmental disorder, X-linked syndromic 32, X-linked recessive, intellectual disability, X-linked, syndromic 32, intellectual disability, X-linked, syndromic type 32, mental retardation, X-linked, syndromic 32, mental retardation, X-linked, syndromic type 32