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Metadata
ID	DOID:0081396
Name	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
Definition	A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. https://pubmed.ncbi.nlm.nih.gov/28549128/
Xrefs	MIM:618810 ORDO:615983
Subsets	DO_rare_slim
Synonyms	PHRINL syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease