Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
7p14.3
Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKSCL2) is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614557.1 | Saudi Arabia | Male | Yes | Cutis laxa; Joint hypermobility; Global ... Cutis laxa; Joint hypermobility; Global developmental delay; Abnormal facial shape; Microcephaly; Hypotonia; Waddling gait; Myopathy; Patent ductus arteriosus  | NM_017946.4:c.197+5_197+8del | Homozygous | Autosomal, Recessive | Alazami et al, 2016 |