Li-Fraumeni syndrome 2

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.

Li-Fraumeni syndrome 1

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.

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.

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 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.

X-linked recessive disease

A X-linked monogenic disease that has_material_basis_in recessive inheritance.

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.

Bryant-Li-Bhoj neurodevelopmental syndrome 1

A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.