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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly, short stature, polymicrogyria with / without seizures


Short information

Curated single gene sequence analysis according to the clinical suspicion polymicrogyria with seizures

Number of genes
1 Accredited laboratory test
Examined sequence length
6,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Microcephalic primordial dwarfism due to RTTN deficiency is multiple congenital anomalies/dysmorphic syndrome with primary microcephaly, profound short stature, moderate/severe intellectual disability, global developmental delay, craniofacial dysmorphism (sloping forehead, high + broad nasal bridge), variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum + deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive, sacral lesion cephalad to the gluteal crease


  • Alias: Microcephalic primordial dwarfism due to RTTN deficiency (RTTN)
  • Alias: Microcephaly, short stature, polymicrogyria with/-out seizures (RTTN)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined