Version 3.155
Latest signed off version: v3.0
(22 Mar 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
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
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
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
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
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
- MRXSSD
- Cleft lip
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
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
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mental retardation syndrome, X-linked, Siderius type, 300263
- MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD)
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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 syndrome, X-linked, Siderius type, 300263
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