IllnessMenke-Hennekam syndrome 2; Rubinstein-Taybi syndrome 2
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Menke-Hennekam ayndrome 2 or Rubinstein Taybi syndrome 2, respectively
ID
MS9567
Number of genes
1
Accredited laboratory test
Examined sequence length
7,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
EP300 | 7245 | NM_001429.4 | AD |
Informations about the disease
Clinical Comment
Menke-Hennekam syndrome-2 (MKHK2): variable impairment of intellectual development and facial dysmorphisms, feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment
NO Orphanet# for MKHK2; Rubinstein-Taybi syndrome 2 (ORPHA:353284)!
Synonyms
- Menke-Hennekam syndrome 2 (EP300)
- Rubinstein-Taybi syndrome 2 (EP300)
Heredity, heredity patterns etc.
- AD
ICD10 Code
Bioinformatics and clinical interpretation
No text defined