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Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

MONDO:0014258

Also known as: asparagine synthetase deficiency, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, ASNSD, Asns deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome itself.

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↑ Syndromic disease (7158) ↑ Inborn errors of metabolism (2231)
Including sub-types (1) Tagged with Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome (1)
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  • New program aims to ease burden on families of kids with rare diseases

    Symptom relief By invitation only

    This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

    Sponsor: Children's National Research Institute • Aim: Symptom relief

    Last updated Jun 27, 2026 09:00 UTC

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