Klinische FragestellungMikrozephalie, isoliert, primär/sekundär; Differentialdiagnose

NGS +

[Sanger]

Genetisch heterogene Störung der Gehirnentwicklung mit reduziertem Kopfumfang bei Geburt ohne grobe Anomalien der Gehirnarchitektur + variable Grade intellektueller Beeinträchtigung

• Alias: Microcephalia vera
• Alias: Microcephaly vera
• Alias: True microcephaly
• Allelic: Aplastic anemia (NBN)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Allelic: Intellectual disability [panelapp] (MCM7)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Meier-Gorlin syndrome [panelapp] (MCM7)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Seckel syndrome 4 (CENPJ)
• Allelic: Seckel syndrome 5 (CEP152)
• Ataxia-telangiectasia-like disorder 1 (MRE11)
• Baralle-Macken syndrome (COPB1)
• Bloom syndrome-like disorder [panelapp] (RMI1)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cornelia de Lange-like syndrome [MONDO:0016033] (BRD4)
• Developmental + epileptic encephalopathy 104 (ATP6V0A1)
• Developmental + epileptic encephalopathy 107 (NAPB)
• Developmental delay + microcephaly [panelapp] (HMGB1)
• Epilepsy, ID, microcephaly [panelapp] (ATP6V0C)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Global developm. delay, ID, seizures, white matter atrophy, corpus callosum + head abnormal (DROSHA)
• Intellectual developmental disorder, AR 73 (NAA20)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
• Meier-Gorlin syndrome [MONDO:0016817] (GINS3)
• Meier-Gorlin syndrome like [panelapp] (GINS3)
• Microcephaly 1, primary, AR (MCPH1)
• Microcephaly 10, primary, AR (ZNF335)
• Microcephaly 11, primary, AR (PHC1)
• Microcephaly 12, primary, AR (CDK6)
• Microcephaly 13, primary, AR (CENPE)
• Microcephaly 14, primary, AR (SASS6)
• Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
• Microcephaly 22, primary, AR (NCAPD3)
• Microcephaly 25, primary, AR (TRAPPC14)
• Microcephaly 28, primary, AR (RRP7A)
• 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 [panelapp] (MCM7)
• Microcephaly, postnatal progressive, with seizures + brain atrophy (MED17)
• Microcephaly, progressive, seizures + cerebral + cerebellar atrophy (QARS1)
• Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
• Neurodevelopmental delay, postnat. microceph., failure to thrive, gastrointest. [panelapp] (ATP9A)
• Neurodevelopmental disorder with epilepsy + brain atrophy (ATP6V0A1)
• Neurodevelopmental disorder with microcephaly, ataxia + seizures (SARS1)
• Neurodevelopmental disorder with microcephaly, cerebral atrophy, visual impairment (DOHH)
• Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus + seizures (CPSF3)
• Neurodevelopmental disorder with microcephaly, movement abnormalities + seizures (CHKA)
• Neurodevelopmental disorder with poor growth + skeletal anomalies (PCDHGC4)
• Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
• Neurodevelopmental disorder with spasticity, seizures + brain abnormalities (NSRP1)
• Nijmegen breakage syndrome (NBN)
• Nivelon-Nivelon-Mabille syndrome (HHAT)
• PEHO [Progr. Encephalop., edema, Hypsarrythm., Optic atrophy] syndrome-like (CCDC88A)
• Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PRIM1)
• Rauch-Steindl syndrome (NSD2)
• Short stature with microcephaly + distinctive facies (CRIPT)
• Short stature-micrognathia syndrome (ARCN1)
• Spastic paraplegia 47, AR (AP4B1)
• Spastic paraplegia 50, AR (AP4M1)
• Spastic paraplegia 52, AR (AP4S1)
• Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)