العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us
223800.2
Home
Subject Details
Country
Morocco
HPO Terms
Postnatal growth retardation; 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_017653.6:c.1878del
2
NA
Dyggve-Melchior-Clausen Disease
Download Table
Remarks
Patient from Family 5 in the publication
References
El Ghouzzi et al. 2003
© CAGS 2024. All rights reserved.