X-linked intellectual disability
syndromic intellectual characterized by an X-linked inheritance pattern
Armfield syndrome
Human disease
Partington X-linked mental retardation syndrome
syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria
deafness dystonia syndrome
mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems
Allan-Herndon-Dudley syndrome
congenital disorder of nervous system
Arts syndrome
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy
non-syndromic X-linked intellectual disability
non-syndromic intellectual disability characterized by a X-linked inheritance pattern
Brooks-Wisniewski-Brown syndrome
syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has material basis in variation on the X chromosome
Charcot-Marie-Tooth disease type X
Charcot-Marie-Tooth disease that has material basis in X-linked inheritance of a point mutation in the connexin-32 gene
Christianson syndrome
rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures
Prieto syndrome
Human disease
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.
X-linked intellectual disability-hypotonic face syndrome
Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features
deafness-intellectual disability, Martin-Probst type syndrome
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
van den Bosch syndrome
rare genetic disease
fragile X syndrome
congenital disorder of nervous system
Severe X-linked intellectual disability, Gustavson type
medical condition
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities
SCARF syndrome
medical condition
W syndrome
rare hereditary syndrome
mental retardation and microcephaly with pontine and cerebellar hypoplasia
rare X-linked dominant genetic disorder
Coffin-Lowry syndrome
genetic disorder that is X-linked dominant
Norrie disease
genetic disorder that primarily affects the eye and almost always leads to blindness
focal dermal hypoplasia
form of ectodermal dysplasia
Nance-Horan syndrome
disorder of lens
Snyder-Robinson syndrome
Human disease
Aldred syndrome
medical condition