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X-linked syndromic mental retardation 13

X-linked syndromic mental retardation 13 is a recessive diorder caused by mutations of the MECP2 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13
MECP2
X-linked syndromic mental retardation Lubs type
MECP2

References:

1.

Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

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2.

None (2007) MECP2 mutations in males.

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3.

Claes S et al. (1997) X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.

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4.

Gendrot C et al. (1999) X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

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5.

Meloni I et al. (2000) A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

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6.

Orrico A et al. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation.

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7.

Couvert P et al. (2001) MECP2 is highly mutated in X-linked mental retardation.

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8.

Dotti MT et al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men.

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9.

Yntema HG et al. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation.

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10.

Klauck SM et al. (2002) A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

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11.

Winnepenninckx B et al. (2002) Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

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12.

Gomot M et al. (2003) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

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13.

Lindsay S et al. (1996) PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

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14.

OMIM.ORG article

Omim 300055 external link
15.

Orphanet article

Orphanet ID 3077 external link
Update: Aug. 14, 2020
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