IllnessMicrocephaly + periventricular nodulary heterotopias, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + periventricular nodulary heterotopias comprising 4 guideline-curated and altogether 8 curated genes according to the clinical signs
ID
MP1226
Number of genes
8
Accredited laboratory test
Examined sequence length
18,2 kb (Core-/Core-canditate-Genes)
38,7 kb (Extended panel: incl. additional genes)
38,7 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
Brain malformation, due to abnormal neuronal migration, subset of neurons fails to migrate into the developing cerebral cortex, remains as nodules lining ventricular surface. Classical PNH: rare X-linked dominant disorder far more frequent in females with normal intelligence to borderline intellectual deficit, epilepsy of variable severity, extra-central nervous system signs, especially cardiovascular defects, coagulopathy; generally prenatal lethality in males.
Synonyms
- Alias: Microcephaly combined with periventricular nodular heterotopias
- Allelic: Cardiac valvular dysplasia, X-linked (FLNA)
- Allelic: Congenital short bowel syndrome (FLNA)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Mitral valve prolapse 2 (DCHS1)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Terminal osseous dysplasia (FLNA)
- Band heterotopia (EML1)
- Heterotopia, periventricular, 1 (FLNA)
- Periventricular heterotopia with microcephaly (ARFGEF2)
- Periventricular nodular heterotopia 6 (ERMARD)
- Periventricular nodular heterotopia 7 (NEDD4L)
- Periventricular nodular heterotopia 8 (ARF1)
- Periventricular nodular heterotopia 9 (MAP1B)
- Van Maldergem syndrome 1 (DCHS1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined