Klinische FragestellungOkulo-zerebro-faziales Syndrom, Typ Kaufman; Differentialdiagnose

NGS +

• Alias DD: 3p- syndrome
• Alias DD: Blepharophimosis - mental retardation [panelapp] (UBE3B)
• Alias DD: Chromosome 3pter-p25 deletion syndrome
• Alias: BRPF1 associated syndromic intellectual disability with ptosis [panelapp] (BRPF1)
• Alias: Kaufman oculocerebrofacial syndrome (UBE3B)
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Developmental and epileptic encephalopathy 16 (TBC1D24)
• Allelic: Epilepsy, rolandic, with paroxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Genitopatellar syndrome (KAT6B)
• Allelic: Hardikar syndrome (MED12)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Blepharophimosis-Ptosis-Intellectual Disability [BPID] syndrome (UBE3B)
• Blepharophimosis-impaired intellectual development syndrome (SMARCA2)
• Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner (MED12)
• DOORS - Deafness, Onychodystrophy, Osteodystrophy, ment. Retardation Syndrome (TBC1D24)
• FG or Keller syndrome (MED12)
• Intellectual developmental disorder with dysmorphic facies + ptosis (BRPF1)
• Lujan-Fryns syndrome (MED12)
• Nicolaides-Baraitser syndrome (SMARCA2)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• SBBYSS syndrome (KAT6B)