Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Expert Review
Phenotypes
- Baraitser Winter Syndrome
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Baraitser-Winter syndrome 2, 614583
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BARAITSER-WINTER SYNDROME
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Baraitser-Winter syndrome 2, OMIM:614583
Tags
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Version 3.79
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BARAITSER-WINTER SYNDROME
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- hearing loss
- Deafness, autosomal dominant 20/26, 604717
- Baraitser-Winter syndrome 2, 614583
- #604717
- Hearing loss, sensorineural, bilateral, progressive
- Hearing loss begins with loss of high frequencies
- Audiogram shows sloping configuration
- Deafness, profound, by 6th decade
- Trigonocephaly/metopic ridge
- Prominent/full/wide cheeks
- Pointed chin
- Retrognathia (in some patients)
- Abnormally shaped ears
- Deafness (in some patients)
- Microphthalmia (in some patients)
- Arched eyebrows
- Long palpebral fissures
- Eye coloboma (in some patients)
- Hypertelorism/telecanthus
- Ptosis
- Short, upturned nose
- Large, squared nose tip
- Prominent nasal root on profile
- Thick/prominent/everted lower lipCleft lip/palate (in some patients)
- Long philtrum
- Thin upper lip
- Large mouth
- Short neck (in some patients)
- Pterygium colli (in some patients)
- Heart defect (in some patients)
- Kyphosis/scoliosis (in some patients)
- Pectus (in some patients)
- Enlarged ventricles (in some patients)
- Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)
- Epilepsy
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- BARAITSER-WINTER SYNDROME 2
- BRWS2
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
- BARAITSER-WINTER SYNDROME
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Baraitser-Winter syndrome 2, 614583
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Version 1.182
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Baraitser-Winter syndrome 2, 614583
- Deafness, autosomal dominant 20/26, 604717
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