Level 2: Viral research
Version 1.142
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
- Defects in Intrinsic and Innate Immunity
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- IUIS Classification December 2019
- Expert Review Red
- IUIS Classification February 2018
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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Unknown
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Sources
Phenotypes
- Lubs X-Linked Mental Retardation Syndrome
- MRXSL
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