Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert Review Amber
Phenotypes
- ENDOVE syndrome, limb-only type, MIM# 619217
- ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- ENDOVE syndrome, limb-only type, MIM# 619217
- ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert Review Amber
Phenotypes
- ENDOVE syndrome, limb-only type, MIM# 619217
- ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
|