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

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 RecessivePHRINLPONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHALPhrinl Syndrome