Disease #07010 (CONRIBA (neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities), OMIM:619173)

Official abbreviation CONRIBA
Name neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
OMIM ID 619173
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CLCN6
Associated tissues -
Disease features -
Remarks -
Date created 2023-04-14 13:15:07 +02:00 (CEST)
Date last edited N/A


Individuals

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00434911 241153 - - F no Germany - - - - - CONRIBA Global developmental delay, Delayed speech and language development, Motor delay, Motor stereotypy, Vomiting, Hypotonia CLCN6 CLCN6 1 1 Andreas Laner
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