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Version 4.6
Latest signed off version: v4.0
(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
- Expert Review Red
- NHS GMS
- Literature
Phenotypes
- Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886
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, syndromic 32 300886
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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 Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886
Tags
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