Oral-Facial-Digital sendrom II
Orofaciodigital sendrom 2 (OFD II)
Mohr sendromu
Mohr-Claussen sendromu
Kalıtsal - AR
Gelişme geriliği
Hipertelorizm
Burun ucu iki loblu
İşitme sorunları
Maksilla hipoplazisi (mikrognati)
Yarık dil
Dilde lobülasyon
Dil sırtında hamartomatöz oluşum (yağ dokusu)
Çok sayıda frenulum
Yarık üst dudak (orta çizgi yarığı)
Yarık damak
Hipodonti (kesici dişler)
Skolyoz
Parmak anomalileri
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Toriello HV. Oral-facial-digital syndromes. Clinical Dysmorphology, 2: 95-105, 1993
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Prpić I, Cekada S, Franulović J. Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. Clinical Genetics, 48(6):304-307, 1995
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Haug K, Khan S, Fuchs S, König R. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. American Journal of Medical Genetics, 91(2):135-137, 2000
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Siebert JR. The oral-facial-digital syndromes. Handbook of Clinical Neurology, 87:341-351, 2008
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Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22(3):109-114, 2013
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Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22: 109-114, 2013
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Rhouma A, Horneff G. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. Klinische Pädiatrie, 226(2):78-79, 2014
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Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017