223800.3

Country

Lebanon

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

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017653.4:c.1252-1G>A	2	NA	Dyggve-Melchior-Clausen Disease

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Remarks

Patient from Family 9 in the publication. The same patient was described in a previous locus homozygosity mapping study.

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
223800.6	Lebanon	Global developmental delay; Short stature; Scoliosis	Male		Yes
223800.7	Lebanon	Seizure ; Short stature; Brachydactyly; Camptodactyly; Hyperlordosis; Platyspondyly	Female	Yes	Yes
223800.10	Lebanon	Intellectual disability; Short stature; Short neck; Pectus excavatum; Intercostal retractions		Yes	Yes
223800.11	Lebanon	Skeletal dysplasia	Male			Patient's parents are from the same region.
223800.12	Lebanon	Intellectual disability; Abnormality of the vertebral column; Microcephaly	Male	Yes	Yes