Details of Disease
General Information of Disease (ID: DISD1B3A)
Disease Name | NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability | ||||
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Synonyms | NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability | ||||
Definition |
A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.
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Disease Hierarchy | |||||
Molecular Interaction Atlas (MIA) of This Disease
Molecular Interaction Atlas (MIA) | |||||||||||||||||||||||||
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This Disease Is Related to 1 DTT Molecule(s)
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This Disease Is Related to 1 DOT Molecule(s)
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References