Category
page 1X-linked dominant disorders
Rett syndrome
genetic brain disorder
fragile X syndrome
congenital disorder of nervous system
Aicardi syndrome
syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye
Bloch-Sulzberger syndrome
genetic disorder that affects the skin, hair, teeth, nails, and central nervous system
Lujan–Fryns syndrome
rare genetic condition in humans
X-linked dominant
mode of inheritance
X-linked hypophosphatemic rickets
Human disease
CHILD syndrome
human disease
focal dermal hypoplasia
form of ectodermal dysplasia
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craniofrontonasal dysplasia
human disease
oculo-facial-cardio-dental syndrome
Very rare genetic disease involving ocular abnormalities and cardiac abnormalities.