Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0
(22 Mar 2023)
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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
Phenotypes
- Neurooculocardiogenitourinary syndrome, OMIM:618652
Tags
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Neurooculocardiogenitourinary syndrome
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Version 3.88
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
- SYNDROMIC INTELLECTUAL DISABILITY 612100
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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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
- Global developmental delay
- Intellectual disability
- Seizures
- Abnormality of the eye
- Abnormality of nervous system morphology
- Hearing abnormality
- Abnormality of the cardiovascular system
- Abnormality of the skeletal system
- Abnormality of the genitourinary system
- Neurooculocardiogenitourinary syndrome, OMIM:618652
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- Abnormality of the eye
- Abnormality of nervous system morphology
- Hearing abnormality
- Abnormality of the cardiovascular system
- Abnormality of the skeletal system
- Abnormality of the genitourinary system
- Neurooculocardiogenitourinary syndrome, OMIM:618652
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Other
Phenotypes
- corneal opacity
- Peters anomaly
- coloboma
- microcornea
- Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850
Tags
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Version 1.184
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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
- Neurooculocardiogenitourinary syndrome, 618652
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