Klinische FragestellungMikrozephalie, Differentialdiagnose

NGS +

[Sanger]

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

• Alias: Microcephaly [comprehensive panel]
• Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
• Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
• Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
• Allelic: Aplastic anemia (NBN)
• Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
• Allelic: Autism, susceptibility to, XL 5 (RPL10)
• Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast cancer, susceptibility to (RAD51)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
• Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
• Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
• Allelic: Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Allelic: Epilepsy, progressive myoclonic, 9 (LMNB2)
• Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
• Allelic: Hepatocellular carcinoma, somatic (CTNNB1)
• Allelic: Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Leukodystrophy, adult-onset, AD (LMNB1)
• Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
• Allelic: Medulloblastoma, somatic (CTNNB1)
• Allelic: Mental retardation, with/-out nystagmus (CASK)
• Allelic: Migraine, familial basilar (ATP1A2)
• Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Oocyte maturation defect 9 (TRIP13)
• Allelic: Ovarian cancer, somatic (CTNNB1)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Pancreatic carcinoma, somatic (RBBP8)
• Allelic: Pilomatricoma, somatic (CTNNB1)
• Allelic: Premature chromatid separation trait (BUB1B)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Roifman syndrome (RNU4ATAC)
• Allelic: Seckel syndrome 4 (CENPJ)
• Allelic: Seckel syndrome 5 (CEP152)
• Allelic: Stuttering, familial persistent, 1 (AP4E1)
• Allelic: Thiamine metabolism dysfunction syndrome 4 [progressive polyneuropathy type] (SLC25A19)
• Allelic: Thyroid carcinoma, follicular (MINPP1)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• Allelic: Ventricular fibrillation, paroxysmal familial, 2 (DPP6)
• Allelic: Wilms tumor (BRCA2)
• Allelic: Xeroderma pigmentosum, group F (ERCC4)
• Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Alazami syndrome (LARP7)
• Alzahrani-Kuwahara syndrome (SMG8)
• Angelman syndrome (UBE3A)
• Ataxia-telangiectasia-like disorder 1 (MRE11)
• Baralle-Macken syndrome (COPB1)
• Bloom syndrome (BLM)
• Bloom syndrome-like disorder [panelapp] (RMI1)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Colorectal cancer, somatic (CTNNB1)
• Congenital disorder of glycosylation, type Ie (DPM1)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• De Sanctis-Cacchione syndrome (ERCC6)
• Developmental + epileptic encephalopathy 29 (AARS1)
• Developmental + epileptic encephalopathy 44 (UBA5)
• Developmental + epileptic encephalopathy 83 (UGP2)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• Developmental delay, AR, intellectual disability + microcephaly (NAA20)
• Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
• Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
• Encephalopathy, progressive, early-onset, with brain atrophy + spasticity (TRAPPC12)
• Epilepsy, intellectual disability, microcephaly [panelapp] (ATP6V0C)
• FG syndrome 4 (CASK)
• Failure to thrive, profound global developmental delay, postnatal microcephaly [panelapp] (VPS50)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group C (FANCD2)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group R (RAD51)
• Faundes-Banka syndrome (EIF5A)
• Feingold syndrome 1 (MYCN)
• Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic facies (ATP1A2)
• Filippi syndrome (CKAP2L)
• Galloway-Mowat syndrome 1 (WDR73)
• Galloway-Mowat syndrome 2, XL (LAGE1)
• Galloway-Mowat syndrome 3 (OSGEP)
• Galloway-Mowat syndrome 4 (TP53RK)
• Galloway-Mowat syndrome 6 (WDR4)
• Galloway-Mowat syndrome 7 (NUP107)
• Goldberg-Shprintzen megacolon syndrome (KIFBP)
• Growth delay, microcephaly + intellectual disability [panelapp] (HIST1H4C)
• Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
• Growth retardation, impaired intellectual development, hypotonia, hepatopathy (IARS1)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 2 (UNC80)
• ID [MONDO:0001071], microcephaly [MONDO:0001149], short stature [HP:0004322] (WDR11)
• ID [panelapp] (CTCF)
• ID, microcephaly, abnormal heart morphology, abnormal face [panelapp] (BRD4)
• ID, microcephaly, heart defect, cleft palate, contract., deafness, skin creases [panelapp] (FBRSL1)
• ID, postnatal microcephaly, failure to thrive, abnormal abdomen [panelapp] (ATP9A)
• ID, postnatal microcephaly, hypotonia, failure to thrive [panelapp] (SMARCA5)
• Insulin-like growth factor I, resistance to (IGF1R)
• Intellectual developmental disorder with abnormal behavior, microcephaly + short stature (PUS7)
• Intellectual developmental disorder with hypotonia, impaired speech, dysmorphic facies (TNPO2)
• Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
• Intellectual developmental disorder, AR 72 (METTL5)
• Jawad syndrome (RBBP8)
• Kaya-Barakat-Masson syndrome (YIF1B)
• LIG4 syndrome (LIG4)
• Leukodystrophy, hypomyelinating, 14 (UFM1)
• Lissencephaly 4 [with microcephaly] (NDE1)
• Lowry-Wood syndrome (RNU4ATAC)
• MEHMO syndrome (EIF2S3)
• Mandibulofacial dysostosis, Guion-Almeida type Mandibulofacial dysostosis, Guion-Almeida t. (EFTUD2)
• Meckel syndrome 12 (KIF14)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 6 (GMNN)
• Meier-Gorlin syndrome, microcephaly, intellectual disability [panelapp] (MCM7)
• Menke-Hennekam syndrome 1 (CREBBP)
• Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Mental retardation, AD 33 (DPP6)
• Mental retardation, AD 40 (CHAMP1)
• Mental retardation, AD 54 (CAMK2B)
• Mental retardation, AD 7 (DYRK1A)
• Mental retardation, AR 13 (TRAPPC9)
• Mental retardation, AR 60 (TAF13)
• Mental retardation, XL syndromic, Christianson type (SLC9A6)
• Mental retardation, XL, syndromic, 35 (RPL10)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microcephalic primordial dwarfism [MONDO:0017950] (PRIM1)
• Microcephalic primordial dwarfism [panelapp] (ATRIP)
• Microcephaly + chorioretinopathy, AR, 2 (PLK4)
• Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
• Microcephaly 1, primary, AR (MCPH1)
• Microcephaly 10, primary, AR (ZNF335)
• 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 syn. C7orf43)
• Microcephaly 26, primary, AD (LMNB1)
• Microcephaly 27, primary, AD (LMNB2)
• Microcephaly 28, primary, AR (RRP7A)
• Microcephaly 3, primary, AR (CDK5REP2)
• Microcephaly 4, primary, AR (KNL1)
• Microcephaly 5, primary, AR (ASPM)
• Microcephaly 6, primary, AR (CENPJ)
• Microcephaly 7, primary, AR (STIL)
• Microcephaly 8, AR (CEP135)
• Microcephaly 9, primary, AR (CEP152)
• Microcephaly [MONDO:0001149] (NSD2)
• Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
• Microcephaly, Amish type (SLC25A19)
• Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
• Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
• Microcephaly, facial dysmorphism, renal agenesis, ambiguous genitalia syndrome (CTU2)
• Microcephaly, growth deficiency, seizures + brain malformations (WDR4)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Microcephaly, intellectual disability [panelapp] (PDCD6IP)
• Microcephaly, intellectual disability, epilepsy [panelapp] (AGMO)
• Microcephaly, postnatal progressive, with seizures + brain atrophy (MED17)
• Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS1)
• Microcephaly, seizures + developmental delay (PNKP)
• Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
• Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
• Microcephaly, short stature + limb abnormalities (DONSON)
• Microcephaly, short stature + polymicrogyria with seizures (RTTN)
• Microcephaly-capillary malformation syndrome (STAMBP)
• Microcephaly-micromelia syndrome (DONSON)
• Microhydranencephaly (NDE1)
• Mosaic variegated aneuploidy syndrome 1 (BUB1B)
• Mosaic variegated aneuploidy syndrome 2 (CEP57)
• Mosaic variegated aneuploidy syndrome 3 (TRIP13)
• Mowat-Wilson syndrome (ZEB2)
• Multinucleated neurons, anhydramnios, renal dysplasia, cereb. hypoplasia, hydranencephaly (CEP55)
• Mungan syndrome (RAD21)
• Neurodegeneration with brain iron accumulation 6 COASY)
• Neurodevelop. disorder, microcephaly, impaired language, epilepsy, gait abnormalities, AD (NARS)
• Neurodevelopmental abnormality [HP:0012759] (PCDHGC4)
• Neurodevelopmental disorder + structural brain anomalies with/-out seizures, spasticity (PTPN23)
• Neurodevelopmental disorder with ataxia, hypotonia + microcephaly (SVBP)
• Neurodevelopmental disorder with cerebral atrophy + variable facial dysmorphism (TTC5)
• Neurodevelopmental disorder with dysmorphic facies + distal limb anomalies (BPTF)
• Neurodevelopmental disorder with hypotonia, microcephaly + seizures (ADARB1)
• Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
• Neurodevelopmental disorder with microcephaly + structural brain anomalies (DYNC1I2)
• Neurodevelopmental disorder with microcephaly, ataxia + seizures (SARS1)
• Neurodevelopmental disorder with microcephaly, cortical malformations, spasticity (TMX2)
• Neurodevelopmental disorder with microcephaly, epilepsy, brain atrophy (TRAPPC6B)
• Neurodevelopmental disorder with microcephaly, hypotonia + variable brain anomalies (PRUNE1)
• Neurodevelopmental disorder with progr. microcephaly, spasticity, brain abnormalities (MFSD2A)
• Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
• Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
• Neurodevelopmental disorder with spasticity + poor growth (UFC1)
• Neurodevelopmental disorder, progressive spasticity + brain white matter abnormalities (HPDL)
• Neurooculocardiogenitourinary syndrome (WDR37)
• Nijmegen breakage syndrome (NBN)
• Nijmegen breakage syndrome-like disorder (RAD50)
• Nivelon-Nivelon-Mabille syndrome (HHAT)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• PEHO syndrome-like (CCDC88A)
• Pachygyria, microcephaly, developmental delay, dysmorphic face, with/-out seizures (TUBGCP2)
• Periventricular heterotopia with microcephaly (ARFGEF2)
• Pontocerebellar hypoplasia type 1A (VRK1)
• Pontocerebellar hypoplasia type 2A (TSEN54)
• Pontocerebellar hypoplasia type 4 (TSEN54)
• Pontocerebellar hypoplasia type 5 (TSEN54)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Pontocerebellar hypoplasia, type 14 (PPIL1)
• Pontocerebellar hypoplasia, type 16 (MINPP1)
• Pontocerebellar hypoplasia, type 2F (TSEN15)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
• Renpenning syndrome (PQBP1)
• Rett syndrome, congenital variant (FOXG1)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Sandestig-Stefanova syndrome (NUP188)
• Seckel syndrome 1 (ATR)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 6 (CEP63)
• Seckel syndrome 8 (DNA2)
• Seckel syndrome 9 (TRAIP)
• Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
• Severe combined immunodeficiency, microcephaly, growth retard., sens. to ionizing radiat. (NHEJ1)
• Short stature with microcephaly + distinctive facies (CRIPT)
• Short stature, microcephaly + endocrine dysfunction (XRCC4)
• Short stature, onychodysplasia, facial dysmorphism + hypotrichosis (POC1A)
• Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spastic paraplegia 47, AR (AP4B1)
• Spastic paraplegia 50, AR (AP4M1)
• Spastic paraplegia 51, AR (AP4E1)
• Spastic paraplegia 52, AR (AP4S1)
• Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
• Spinocerebellar ataxia, AR 24 (UBA5)
• Stromme syndrome (CENPF)
• Tatton-Brown-Rahman syndrome (DNMT3A)
• Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
• Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
• Verheij syndrome (PUF60)
• Warsaw breakage syndrome (DDX11)
• White-Sutton syndrome (POGZ)
• XFE progeroid syndrome (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)