©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly [patients without Seckel symptoms], differential diagnosis


Short information

Comprehensive differential diagnostic panel for Microcephaly (patients without Seckel symptoms) comprising 6 guideline-curated genes and altogether 28 curated genes

Number of genes
12 Accredited laboratory test
Examined sequence length
28,8 kb (Core-/Core-canditate-Genes)
56,1 kb (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

Primary microcephaly (MCPH) is a disorder of brain development that causes occipitofrontal head circumference to be significantly below the mean for (gestational) age and sex. MCPH has many non-genetic causes, while genetic microcephaly/syndromes are relatively rare overall. Genes mutated in microcephaly encode centrosomal proteins (centriole biogenesis) and many different mechanistic categories, especially DNA replication and repair. The severity of developmental delay/intellectual disability appears to correlate with the severity of primary microcephaly. This microcephaly panel is compiled according to the guidelines (see below) and summarizes the relevant genes of several categories. All classical modes of inheritance are observed in microcephaly, but multifactorial events are quite prominent. The diagnosis rates vary between the microcephaly categories and depend primarily on the clinical preliminary examination results. An inconspicuous genetic finding does not mean exclusion of the clinical suspected diagnosis.

Reference: https://www.awmf.org/uploads/tx_szleitlinien/022-028l_S2k_Klassifikation_Diagnostik_Mikrozephalie_2019-11.pdf


  • AR primary microcephaly (AGMO)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Epilepsy, progressive myoclonic, 9 (LMNB2)
  • Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukodystrophy, adult-onset, AD (LMNB1)
  • Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Seckel syndrome 4 (CENPJ)
  • Allelic: Seckel syndrome 5 (CEP152)
  • Allelic: Ventricular fibrillation, paroxysmal familial, 2 (DPP6)
  • Lissencephaly 4, with microcephaly (NDE1)
  • Meckel syndrome 12 (KIF14)
  • Mental retardation, AD 19 (CTNNB1)
  • Mental retardation, AD 33 (DPP6)
  • Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly 1, primary, AR (MCPH1)
  • Microcephaly 10, primary, AR (ZNF335)
  • Microcephaly 12, primary, AR (CDK6)
  • Microcephaly 14, primary, AR (SASS6)
  • Microcephaly 16, primary, AR (ANKLE2)
  • Microcephaly 17, primary, AR (CIT)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 20, primary, AR (KIF14)
  • Microcephaly 21, primary, AR (NCAPD2)
  • Microcephaly 22, primary, AR (NCAPD3)
  • Microcephaly 25, primary, AR (TRAPPC14)
  • Microcephaly 26, primary, AD (LMNB1)
  • Microcephaly 27, primary, AD (LMNB2)
  • Microcephaly 29, primary, AR (PDCD6IP)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 4, primary, AR (KNL1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly 8, primary, AR (CEP135)
  • Microcephaly 9, primary, AR (CEP152)
  • Microcephaly and chorioretinopathy, AR, 2 (PLK4)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Nijmegen breakage syndrome (NBN)
Heredity, heredity patterns etc.
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined