X-linked mental retardation-hypotonic facies syndrome-1

A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

leukocyte adhesion deficiency 2

A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.

X-linked spinocerebellar ataxia 4

An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.

X-linked cerebellar ataxia

A hereditary ataxia characterized by X-linked inheritance.

X-linked spinocerebellar ataxia 3

An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.

deafness-intellectual disability, Martin-Probst type syndrome

A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome.

X-linked central diabetes insipidus

A central diabetes insipidus that has_material_basis_in X-linked inheritance.

X-linked dominant disease

A X-linked monogenic disease that has_material_basis_in dominant inheritance.

X-linked recessive disease

A X-linked monogenic disease that has_material_basis_in recessive inheritance.

X-linked hereditary ataxia

A hereditary ataxia that is characterized by X-linked inheritance.