pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

Rare Disease

MONDO:0032931

Also known as:

fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndromefatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndromeChromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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