IllnessMicrocephaly + cerebellar hypoplasia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + cerebellar hypoplasia comprising 3 guideline-curated and another 5 curated genes
ID
MP1228
Number of genes
8
Accredited laboratory test
Examined sequence length
15,8 kb (Core-/Core-canditate-Genes)
23,0 kb (Extended panel: incl. additional genes)
23,0 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
Group of disorders
Ciliary dyskinesias might be considered as well
Synonyms
- Allelic: Mental retardation, with or without nystagmus (CASK)
- Allelic: Thyroid carcinoma, follicular? (MINPP1)
- Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (VLDLR)
- FG syndrome 4 (CASK)
- Lissencephaly 2 [Norman-Roberts type] (RELN)
- Mental retardation and microcephaly with pontine + cerebellar hypoplasia (CASK)
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (QARS)
- Pontocerebellar hypoplasia type 1A (VRK1)
- Pontocerebellar hypoplasia type 2A (TSEN54)
- Pontocerebellar hypoplasia type 2F (TSEN15)
- Pontocerebellar hypoplasia type 4 (TSEN54)
- Pontocerebellar hypoplasia type 5 (TSEN54)
- Pontocerebellar hypoplasia, type 14 (PPIL1)
- Pontocerebellar hypoplasia, type 16 (MINPP1)
Heredity, heredity patterns etc.
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined