Deutsch
IllnessAcrocallosal syndrome, differential diagnosis
Summary
Short information
Sequence analysis of 1 to 3 curated genes according to clinical suspicion
ID
AP0090
Number of genes
3
Accredited laboratory test
Examined sequence length
5,2 kb (Core-/Core-canditate-Genes)
9,9 kb (Extended panel: incl. additional genes)
9,9 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
Clinical Comment
Polymalformative syndrome with agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies + intellectual deficit
Synonyms
- Sympt.: Hallux duplication, postaxial polydactyly, absence of corpus callosum, mental retardation
- symptoms overlap with acrocallosal syndrome: Greig cephalopolysyndactyly syndrome (GLI3)
- Alias: Schinzel acrocallosal syndrome
- Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
- Allelic: Ciliopathy gene associated with cystic kidney disease (KIF7)
- Allelic: Hydrolethalus syndrome 2, death in utero (KIF7)
- Allelic: Pallister-Hall syndrome (GLI3)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Joubert syndrome 12 (KIF7)
- Joubert syndrome 12/15 digenic (KIF7/CEP41)
- Joubert syndrome 15 (CEP41)
Heredity, heredity patterns etc.
- AD
- AR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined