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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
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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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Deafness, autosomal dominant 73, OMIM:617663
- Deafness, autosomal recessive 84A, OMIM:613391
Tags
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