Leber Congenital Amaurosis - UGent

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Full name:	Leber Congenital Amaurosis - UGent
Laboratory:	Centrum Medische Genetica - UZ Gent
Created:	18 Jun 2019 - 10:55
Changed:	14 Dec 2022 - 16:39

Related Diseases

• Cone rod dystrophy
• Leber congenital amaurosis
• Retinitis pigmentosa
• Senior-Loken syndrome
• Severe early-childhood-onset retinal dystrophy

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AIPL1	100.00	0
CEP290	100.00	0
CRB1	100.00	0
CRX	100.00	0
GUCY2D	100.00	0
IQCE	100.00	0
LCA5	100.00	0
LRAT	100.00	0
NMNAT1	100.00	0
RDH12	100.00	0
RPE65	100.00	0