Neurodegeneration, Childhood-onset, With Brain Atrophy; Condba
Description
CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).
Genes related to Neurodegeneration, Childhood-onset, With Brain Atrophy; Condba
- UBTF
Clinical Features
Top most frequent phenotypes and symptoms related to Neurodegeneration, Childhood-onset, With Brain Atrophy; Condba
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Visual impairment
- Feeding difficulties
- Dystonia
- Rigidity
- Abnormal pyramidal sign
- Developmental regression
Incidence and onset information
— Not enough data available about incidence and published cases.
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Neurodegeneration, Childhood-onset, With Brain Atrophy; Condba Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
UBTF.
By Fulgent Genetics Fulgent Genetics in United States.
UBTF
Specificity
100 %
Genes
100 % |
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