SettingsX-linked dominant disorders
Aicardi syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abno...
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abno...
Bazex-Dupré-Christol syndrome
Bazex-Dupre-Christol syndrome (also known as "Bazex syndrome," and "Follicular atrophoderma and basal cell carcinomas") is a very rare condition inherited in an X-linked dominant fashion.
Bazex-Dupre-Christol syndrome (also known as "Bazex syndrome," and "Follicular atrophoderma and basal cell carcinomas") is a very rare condition inherited in an X-linked dominant fashion.
Bazex–Dupré–Christol syndrome
Bazex-Dupre-Christol syndrome (also known as "Bazex syndrome," and "Follicular atrophoderma and basal cell carcinomas") is a very rare condition inherited in an X-linked dominant fashion.
Bazex-Dupre-Christol syndrome (also known as "Bazex syndrome," and "Follicular atrophoderma and basal cell carcinomas") is a very rare condition inherited in an X-linked dominant fashion.
CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.
Fabry disease
Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (...
Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (...
Focal dermal hypoplasia
Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia.
Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia.
Fragile X syndrome
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known si...
Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known si...
Incontinentia pigmenti
Incontinentia Pigmenti (also known as "Bloch–Siemens syndrome," "Bloch–Sulzberger disease," "Bloch–Sulzberger syndrome" "melanoblastosis cutis," and "naevus pigmentosus systematicus") is a genet...
Incontinentia Pigmenti (also known as "Bloch–Siemens syndrome," "Bloch–Sulzberger disease," "Bloch–Sulzberger syndrome" "melanoblastosis cutis," and "naevus pigmentosus systematicus") is a genet...
Lujan-Fryns syndrome
Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X-linked genetic disorder that causes mild to moderate me...
Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X-linked genetic disorder that causes mild to moderate me...
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females.
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females.
X-linked dominant inheritance
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked hypophosphatemia
X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets or hypophosphatemic vitamin d-resistant rickets (H...
X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets or hypophosphatemic vitamin d-resistant rickets (H...