Klinische FragestellungSpiegelbewegungen, familiäre kongenitale; Differentialdiagnose

NGS +

• Alias: Mirror movements, [familial] congenital
• Allelic: Breast cancer, susceptibility to (RAD51)
• Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
• Allelic: Esophageal carcinoma, somatic (DCC)
• Allelic: Fanconi anemia, complementation group R (RAD51)
• Allelic: Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Microphthalmia with coloboma 6 (GDF3)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Microphthalmia, isolated 7 (GDF3)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Basal cell nevus syndrome ((SSUFU)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (PTCH2)
• Holoprosencephaly 7 (PTCH1)
• Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
• Jawad syndrome: microcephaly, mental retardation, digital anomalies (RBBP8)
• Joubert patients may show mirror movements (AHI1, CC2D2A3, CEP290, CPLANE, TMEM67 + 29 add. genes)
• Klippel-Feil syndrome 1, AD (GDF6)
• Klippel-Feil syndrome 2 (MEOX1)
• Klippel-Feil syndrome 3, AD (GDF3)
• Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)
• Medulloblastoma, desmoplastic (SUFU)
• Microcephaly 6, primary, AR (CENPJ)
• Microcephaly 9, primary, AR (CEP152)
• Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
• Mirror movements 2 (RAD51)
• Mirror movements 3 (DNAL4)
• Mirror movements 4 (NTN1)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
• Seckel syndrome 1 (ATR)
• Seckel syndrome 10 (NSMCE2)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 4 (CENPJ)
• Seckel syndrome 5 (CEP152)
• Seckel syndrome 6 (CEP63)
• Seckel syndrome 7 (NIN)
• Seckel syndrome 8 (DNA2)
• Seckel syndrome 9 (TRAIP)