ErkrankungMikrozephalie, vorwiegend sekundär, syndromal; Differentialdiagnose

NGS +

[Sanger]

Auf der Basis der klinischen Symptomatik sollten die entsprechenden Kandidatengene aus dem panel selektioniert werden.

• Alias: Microcephaly, primarily secondary, syndromal
• Angelman syndrome (UBE3A)
• Cockayne syndrome, type A (ERCC8)
• Cohen syndrome (VPS13B)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Encephalopathy, neonatal severe (MECP2)
• Kabuki syndrome 1 (KMZ2D)
• Kabuki syndrome 2 (KDM6A)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation, X-linked syndromic, Lubs type (MECP2)
• Mental retardation, X-linked, syndromic 13 (MECP2)
• Mowat-Wilson syndrome (ZEB2)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)