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Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Bilateral Microtia
- 614669
- Causes AURICULOCONDYLAR syndrome with microtia
- syndromic features
- Auriculocondylar syndrome 2
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- AURICULOCONDYLAR SYNDROME
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Version 3.90
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- AURICULOCONDYLAR SYNDROME 602483
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Auriculocondylar syndrome 2, OMIM:614669
- auriculocondylar syndrome 2, MONDO:0013845
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