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Level 2: Viral research
Version 1.142
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review
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Unknown
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Sources
- Expert Review Green
- OMIM
- Expert list
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Version 4.4
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
- NHS GMS
- Expert Review Amber
- Literature
Phenotypes
- ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863
Tags
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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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Not set
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Sources
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
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