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ENAsparagine Synthetase Deficiency (ASNSD)
Alias:
Asns Deficiency
Asnsd
Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome
Congenital Microcephaly-Severe Encephalopathy-Progressive Cerebral Atrophy Syndrome
Disorder of Asparagine Metabolism
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Asparagine Synthetase Deficiency, also known as asns deficiency, is related to microcephaly and cerebral atrophy, and has symptoms including seizures, hyperexplexia and feeling jittery. An important gene associated with Asparagine Synthetase Deficiency is ASNS (Asparagine Synthetase (Glutamine-Hydrolyzing)). Affiliated tissues include pons and brain, and related phenotypes are seizure and failure to thrive
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MALACARDS
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