has material basis in germline mutation in CLCN6 neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 15 https://github.com/monarch-initiative/mondo/issues/10442 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/ceroid_lipofuscinosis_neuronal_15 CLCN6-related neuronal ceroid lipofuscinosis neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities GARD:0018023 DOID:0061189 Orphanet:610573 CONRIBA CLN15 ceroid lipofuscinosis, neuronal, 15 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome MONDO:0030947 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a variation in the CLCN6 gene. It is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. UMLS:C5543020 MEDGEN:1781967 OMIM:619173