223800.G.6

Country

Tunisia

HPO Terms

Postnatal growth retardation; Microcephaly; Abnormal facial shape; Abnormal thorax morphology; Scoliosis; Rhizomelia; Intellectual disability; Platyspondyly; Epiphyseal dysplasia; Metaphyseal dysplasia; Iliac crest serration

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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017653.4:c.580C>T	4	NA	Dyggve-Melchior-Clausen Disease

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Remarks

2 patients from Family 8 in the publication. This family was described in a previous locus homozygosity mapping study.

References

Thauvin-Robinet et al. 2002;
El Ghouzzi et al. 2003