Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- ?Parkinsonism with spasticity, X-linked 300911
- Mental retardation, X-linked, syndromic, Hedera type 300423
Tags
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Version 5.1
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
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
Phenotypes
- ?Parkinsonism with spasticity, X-linked, OMIM:300911
- Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423
Tags
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Amber
- Victorian Clinical Genetics Services
- Literature
- Literature
Phenotypes
- Mental retardation, X-linked, syndromic, Hedera type
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, syndromic, Hedera type, 300423
- MENTAL RETARDATION X-LINKED WITH EPILEPSY
- X-linked intellectual disability, Hedera type
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- ?Parkinsonism with spasticity, X-linked 300911
- Mental retardation, X-linked, syndromic, Hedera type 300423
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Version 1.184
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation, X-linked, syndromic, Hedera type, 300423
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