FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome ID (Ontology) DOID:0081396 (Human Disease)
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.
Also Known As "PHRINL syndrome"
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 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome       1
 for disease ribbon | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome       1
 model of | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "PHRINL syndrome" EXACT
Secondary IDs
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MIM:618810
ORDO:615983