Deutsch
IllnessOculocerebrofacial syndrome, Kaufman type; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Oculocerebrofacial syndrome, Kaufman type, comprising 7 curated genes according to the clinical signs
ID
OP7122
Number of genes
4
Accredited laboratory test
Examined sequence length
3,3 kb (Core-/Core-canditate-Genes)
17,4 kb (Extended panel: incl. additional genes)
17,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined