primary ciliary dyskinesia 47 and lissencephaly

Term ID

DOID:0070760

Synonyms

• CILD47

Definition

A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum, that has_material_basis_in homozygous mutation in the TP73 gene on chromosome 1p36. Situs abnormalities have not been reported. (2)

References

• MIM:619466
• UMLS_CUI:C5561951

Ontology

Human Disease   ( DOID:0070760 )