223800.1

Country

Morocco

HPO Terms

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

Back to search Result

Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017653.4:c.610C>T	2	NA	Dyggve-Melchior-Clausen Disease

Download Table

Remarks

Patient from Family 1 in the publication

References

El Ghouzzi et al. 2003