Deutsch
IllnessMeier-Gorlin syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Meier-Gorlin syndrome comprising 8 curated genes according to the clinical signs
ID
MP7658
Number of genes
8
Accredited laboratory test
Examined sequence length
10,2 kb (Core-/Core-canditate-Genes)
12,7 kb (Extended panel: incl. additional genes)
12,7 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
Severe intrauterine + postnatal growth retardation, poor weight gain, microcephaly, bilateral microtia, aplasia/hypoplasia of patellae, characteristic facial features such as high forehead, micrognathism with full lips + small mouth, accentuated nasolabial folds
Synonyms
- Alias: Ear-patella-short stature syndrome
- Alias: Microtia, absent patellae, micrognathia
- Alias: Microtia, absent patellae, micrognathia syndrome
- Meier-Gorlin syndrome 1 (ORC1)
- Meier-Gorlin syndrome 2 (ORC4)
- Meier-Gorlin syndrome 3 (ORC6)
- Meier-Gorlin syndrome 4 (CDT1)
- Meier-Gorlin syndrome 5 (CDC6)
- Meier-Gorlin syndrome 6 (GMNN)
- Meier-Gorlin syndrome 7 (CDC45)
- Meier-Gorlin syndrome 8 (MCM5)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined