X-linked intellectual disability · Medical condition · YYNN

X-linked intellectual disability

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Medical condition

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Subclasses
15

Fragile X syndrome

X-linked dominant genetic disorder

Lujan–Fryns syndrome

Medical condition

Börjeson–Forssman–Lehmann syndrome

Medical condition

Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Rare X-linked dominant genetic disorder

Christianson syndrome

Medical condition

MECP2 duplication syndrome

Medical condition

Genetic disorder that primarily affects the eye

syndromic X-linked intellectual disability Hedera type

syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11

syndromic X-linked intellectual disability 7

syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has material basis in variation in the chromosome region Xp11.3-q22

syndromic X-linked intellectual disability 12

syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has material basis in variation in the chromosome region Xp11

Subject of
1

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

scientific article

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X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.

Instance of

class of disease

Subclass of

Intellectual disability

X-linked disease

syndromic intellectual disability

genetic syndromic intellectual disability

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