607361.3

Country

Morocco

HPO Terms

Polydactyly; Renal cyst; Microcephaly; Occipital encephalocele;
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Parental Consanguinity

No

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_153704.5:c.2439G>A 1
NM_153704.5:c.1336G>C 1

Remarks

Patient is compound heterozygous for the reported variants
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