219800.5

Country

Morocco

HPO Terms

Growth delay; Corneal crystals; Abnormality of the skeletal system
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004937.3:c.922G>A 2

Remarks

Patient 'CY1' in the publication
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