N-acetylaspartate Deficiency; Naced
Genes related to N-acetylaspartate Deficiency; Naced
Clinical FeaturesTop most frequent phenotypes and symptoms related to N-acetylaspartate Deficiency; Naced
- Global developmental delay
- Short stature
- Generalized hypotonia
- Inguinal hernia
- Unsteady gait
- Generalized-onset seizure
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
N-acetylaspartate Deficiency; Naced Is also known as naa deficiency, hypoacetylaspartia.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
N-acetylaspartate Deficiency; Naced Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
By Centogene AG - the Rare Disease Company (Germany).
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)
View the complete list with 1177 more genes
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
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