ErkrankungHoloprosenzephalie, Differentialdiagnose

NGS +

• Alias: "Cyclopia"
• Alias: "Zyklopie"
• Alias: Signs of arhinencephaly
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Basal cell nevus syndrome (SUFU)
• Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Culler-Jones syndrome (GLI2)
• Genitourinary and/or/ brain malformation syndrome (PPP1R12A)
• Hartsfield syndrome (FGFR1)
• Holoprosencephaly 10 (DISP1)
• Holoprosencephaly 11 (CDON)
• Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
• Holoprosencephaly 13, XL (STAG2)
• Holoprosencephaly 2 (SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 4 (TGIF1)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Holoprosencephaly 9 (GLI2)
• Holoprosencephaly spectrum, severe developmental delay, brain malformations [panelapp] (PLCH1)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
• Joubert syndrome 32 (SUFU)
• Kabuki syndrome 1 (KMT2D)
• Microcephaly 7, primary, AR (STIL)
• Microphthalmia with coloboma 5 (SHH)
• Mullegama-Klein-Martinez syndrome (STAG2)
• Mungan syndrome (RAD21)
• Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
• Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
• Schizencephaly (SHH, SIX3)
• Septooptic dysplasia (HESX1)
• Single median maxillary central incisor (SHH)
• Stromme syndrome (CENPF)
• Vissers-Bodmer syndrome (CNOT1)