Dysmorphology

• Absence of ulna and fibula, with severe limb deficiency | Fuhrmann syndrome (deletion/duplication analysis of WNT7A gene) + info
   
• Achondrogenesis type 2 (sequence analysis of COL2A1 gene) + info
   
• Achondroplasia (sequence analysis of exon 9 of FGFR3 gene) + info
   
• Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene) + info
   
• Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene) + info
   
• Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene) + info
   
• Adams-Oliver syndrome (sequence analysis of ARHGAP31 gene) + info
   
• ADULT syndrome (sequencing of the TP63 gene) + info
   
• Alagille syndrome (deletion/duplication analysis on JAG1 gene) + info
   
• Alagille syndrome 2 (deletion/duplication analysis on NOTCH2 gene) + info
   
• Alagille syndrome 2 (sequence analysis of NOTCH2 gene) + info
   
• Alagille syndrome | Tetralogy of Fallot (sequence analysis of JAG1 gene) + info
   
• Arthrogryposis distal (sequence analysis of PIEZO2 gene) + info
   
• Arthrogryposis distal type 7 (sequence analysis of MYH8 gene) + info
   
• Arthropathy, progressive pseudorheumatoid of childhood (sequence analysis of WISP3 gene) + info
   
• Aspartylglucosaminuria (deletion/duplication analysis on AGA gene) + info
   
• Auriculocondylar syndrome 3 (sequence analysis of EDN1 gene) + info
   
• Autosomal dominant popliteal pterygium syndrome (deletion/duplication analysis on IRF6 gene) + info
   
• Axenfeld-Rieger syndrome (sequence analysis of PITX2 gene) + info