| syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking (aandoening) DEPRECATED | | syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking | | syndroom van spondylocostale dysostose, hypospadie en verstandelijke handicap
syndroom van spondylocostale dysostose, hypospadie en mentale retardatie
| | Spondylocostal dysostosis, hypospadias, intellectual disability syndrome | | A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. |
| | Id | 773578004 | | Status | Primitive |
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