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We were unfortunately unable to download the information for this disease from OMIM.
Prevalence of clinical parameters (%)
Add new symptom/sign to this disease
List of symptoms
List of references:
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Roberta Biancheri, Federico Zara, Andrea Rossi, Mikael Mathot, Marie Cecile Nassogne, Cengiz Yalcinkaya, Ozdem Erturk, Behyan Tuysuz, Maja Di Rocco, Elisabetta Gazzerro, Marianna Bugiani, Resie van Spaendonk, Erik A Sistermans, Carlo Minetti, Marjo S van der Knaap, Nicole I Wolf,
To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.
Archives of neurology - Sep 2011
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