Klinische FragestellungHirnfehlbildungen, kongenital; Differentialdiagnose

NGS +

• Alias: Zerebrale Malformationen, kongenital
• Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
• Allelic: Basal cell carcinoma, somatic (PTCH1)
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: CLAPO syndrome, somatic (PIK3CA)
• Allelic: CLOVE syndrome, somatic (PIK3CA)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Charcot-Marie-Tooth disease, type 4J (FIG4)
• Allelic: Colorectal cancer, somatic (PIK3CA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Cowden syndrome 5 (PIK3CA)
• Allelic: Cowden syndrome 6 (AKT)
• Allelic: Curry-Jones syndrome, somatic mosaic (SMO)
• Allelic: Deafness, AD 20/26 (ACTG1)
• Allelic: Dystonia, juvenile-onset (ACTB)
• Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Heimler syndrome 1 (PEX1)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Meningioma (PTEN)
• Allelic: Microphthalmia with coloboma 5 (SHH)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 12 (POMK)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (ISPD)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8 (POMGNT2)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Single median maxillary central incisor (SHH)
• Allelic: Spastic paraplegia 84, AR (PI4KA)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Adams-Oliver syndrome 2 (DOCK6)
• Arthrogryposis [panelapp. MONDO:0008779] (KIF21A)
• Asparagine synthetase deficiency (ASNS)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• Brain malformations +/- urinary tract defects (NFIA)
• CHILD syndrome (NSDHL)
• CK syndrome (NSDHL)
• Chudley-McCullough syndrome (GPSM2)
• Congenital heart defects, dysmorphic facial features, intellectual developmental disorder (CDK13)
• Congenital hyperinsulinism [panelapp] (FOXA2)
• Congenital hypopituitarism [panelapp] (FOXA2)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 10 (APC2)
• Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
• Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
• Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
• Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
• Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Cortical malformations, occipital (LAMC3)
• Culler-Jones syndrome (GLI2)
• Developmental + epileptic encephalopathy 1 (ARX)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
• FG syndrome 2 (FLNA)
• Fetal akinesia (KIF21A)
• Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
• Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Frontometaphyseal dysplasia 1 (FLNA)
• Galloway-Mowat syndrome 3 (OSGEP)
• Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
• Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
• Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
• Goldberg-Shprintzen megacolon syndrome (KIF1BP)
• Hartsfield syndrome (FGFR1)
• Heterotopia, periventricular, 1 (FLNA)
• Holoprosencephaly (DISP1, FGF8)
• Holoprosencephaly 11 (CDON)
• Holoprosencephaly 2 (SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 4 (TGIF1)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Holoprosencephaly 9 (GLI2)
• Hydranencephaly with abnormal genitalia (ARX)
• Hypogonadotropic hypogonadism 2 +/- anosmia (FGFR1)
• Hypogonadotropic hypogonadism 3 +/- anosmia (PROKR2)
• Hypogonadotropic hypogonadism 4 +/- anosmia (PROK2)
• Hypogonadotropic hypogonadism 6 +/- anosmia (FGF8)
• Hypopituitarism, craniofacial + endoderm-derived organ abnormalities [panelapp] (FOXA2)
• Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
• Intellectual developmental disorder, AR 74 (APC2)
• Joubert syndrome 3 (AHI1)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 4 [with microcephaly] (NDE1)
• Lissencephaly 5 (LAMB1)
• Lissencephaly 6, with microcephaly (KATNB1)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Lissencephaly, XL 2 (ARX)
• Macrocephaly/autism syndrome (PTEN)
• Martsolf syndrome 2 (RAB3GAP1)
• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3A)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
• Mental retardation, AD 13 (DYNC1H1)
• Mental retardation, XL 29 + others (ARX)
• Microcephaly 17, primary, AR (CIT)
• Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
• Microcephaly 3, primary, AR (CDK5RAP2)
• Microcephaly 5, primary, AR (ASPM)
• Microcephaly 7, primary, AR (STIL)
• Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
• Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS1)
• Microcephaly, short stature + polymicrogyria with seizures (RTTN)
• Microhydranencephaly (NDE1)
• Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
• Multinucleated neurons, anhydramnios, renal dyspl., cerebellar hypopl., hydranencephaly (CEP55)
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (TMEM5)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (ISPD)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
• Neu-Laxova syndrome 1 (PHGDH)
• Neurodevelopmental disorder with epilepsy + hemochromatosis )PIGA)
• Neurodevelopmental disorder with microcephaly, cortical malformations, spasticity (TMX2)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• Orofaciodigital syndrome XIV (C2CD3)
• Pallister-Hall-like syndrome (SMO)
• Partington syndrome (ARX)
• Periventricular heterotopia with microcephaly (ARFGEF2)
• Periventricular nodular heterotopia 7 (NEDD4L)
• Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
• Peroxisome biogenesis disorder 10B (PEX3)
• Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
• Peroxisome biogenesis disorder 11B (PEX13)
• Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
• Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
• Peroxisome biogenesis disorder 14B (PEX11B)
• Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
• Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
• Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
• Peroxisome biogenesis disorder 2B (PEX5)
• Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
• Peroxisome biogenesis disorder 3B (PEX12)
• Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
• Peroxisome biogenesis disorder 4B (PEX6)
• Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
• Peroxisome biogenesis disorder 5B (PEX2)
• Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
• Peroxisome biogenesis disorder 6B (PEX10)
• Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
• Peroxisome biogenesis disorder 7B (PEX26)
• Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
• Peroxisome biogenesis disorder 8B (PEX16)
• Peroxisome biogenesis disorder 9B (PEX7)
• Phosphoglycerate dehydrogenase deficiency (PHGDH)
• Polymicrogyria +/- vascular-type EDS (COL3A1)
• Polymicrogyria, bilateral frontoparietal (ADGRG1)
• Polymicrogyria, bilateral perisylvian (ADGRG1)
• Polymicrogyria, bilateral temporooccipital (FIG4)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
• Proteus syndrome, somatic (AKT)
• Proud syndrome (ARX)
• Pseudo-TORCH syndrome 1 (OCLN)
• Pseudo-TORCH syndrome 2 (USP18)
• Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
• Schizencephaly (EMX2, SHH, SIX3)
• Severe combined immunodeficiency, microcephaly, growth retardation, radiation sensitive (NHEJ1)
• Smith-Kingsmore syndrome (MTOR)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Subcortical laminal heterotopia, XL (DCX)
• Subcortical laminar heterotopia (PAFAH1B1)
• Vici syndrome (EPG5)
• Warburg micro syndrome 1 (RAB3GAP1)
• Yunis-Varon syndrome (FIG4)