Zentrum für Humangenetik Regensburg Humangenetisches Labor Prof. Hehr

239 capabilities Accredited since June 2025 Verified May 2026 One of 3,188 in Germany
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Details

Luitpoldstraße 4
Regensburg 93047 , Germany

Accreditation

Active DAkkS D-ML-13117-01-00
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Specialises in molecular human genetics and cytogenetics, providing chromosome analysis and copy number variation detection on blood, amniotic fluid, chorionic villi, and other tissue samples using banding analysis and sequencing-based methods.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13117-01-00

Status

Active

Since

12 June 2025

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.

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Test Capabilities (239)
Standard Reference Description Category
Angeborener Chromosomensatz angeborener Chromosomensatz Biocompatibility (ISO 10993)
FGFR1; Kallmann-Syndrom FGFR1; Kallmann-Syndrom Elemental Analysis
(AR) SBMA (AR) Food Safety Testing
(22q11.2) (22q11.2) Molecular Diagnostics / PCR
(ABCB11, ABCB4, ATP7B, BAAT, NR1H4, TJP2) (ABCB11, ABCB4, ATP7B, BAAT, NR1H4, TJP2) Molecular Diagnostics / PCR
(ABCC2) (ABCC2) Molecular Diagnostics / PCR
(ALDOA, ALDOB, ALMS1, LIPA, SLC25A13) (ALDOA, ALDOB, ALMS1, LIPA, SLC25A13) Molecular Diagnostics / PCR
(AP1S2, COL4A1, FKRP, FKTN, GRIN2B, ISPD, L1CAM, POMGnT1, POMT1, POMT2) (AP1S2, COL4A1, FKRP, FKTN, GRIN2B, ISPD, L1CAM, POMGnT1, POMT1, POMT2) Molecular Diagnostics / PCR
(ARFGEF2, ERMARD, FLNA, TUBA1A) (ARFGEF2, ERMARD, FLNA, TUBA1A) Molecular Diagnostics / PCR
(ARSA) (ARSA) Molecular Diagnostics / PCR
(ARX) (ARX) Molecular Diagnostics / PCR
(ASPM, CENPJ, MCPH1, WDR62) (ASPM, CENPJ, MCPH1, WDR62) Molecular Diagnostics / PCR
(ASPM, MCPH1, NBN, TUBA1A, TUBB2B, WDR62) (ASPM, MCPH1, NBN, TUBA1A, TUBB2B, WDR62) Molecular Diagnostics / PCR
(ASPM, WDR62, MCPH1-7, CDK6) (ASPM, WDR62, MCPH1-7, CDK6) Molecular Diagnostics / PCR
(ASXL3) (ASXL3) Molecular Diagnostics / PCR
(ATL1, CYP7B1, KIF5A, REEP1, SPAST, SPG11, SPG7, ZFYVE26) (ATL1, CYP7B1, KIF5A, REEP1, SPAST, SPG11, SPG7, ZFYVE26) Molecular Diagnostics / PCR
(ATP7B) (ATP7B) Molecular Diagnostics / PCR
(ATP8B1, ABCB11, ABCB4) (ATP8B1, ABCB11, ABCB4) Molecular Diagnostics / PCR
(B3GALNT1, CASK, DCX, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) (B3GALNT1, CASK, DCX, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) Molecular Diagnostics / PCR
(CARD9) (CARD9) Molecular Diagnostics / PCR
(CASK, RELN, TUBA1A, TUBB2B, VLDLR) (CASK, RELN, TUBA1A, TUBB2B, VLDLR) Molecular Diagnostics / PCR
(CCM1, CCM2, CCM3) (CCM1, CCM2, CCM3) Molecular Diagnostics / PCR
(CCM2, KRIT1, PDCD10) (CCM2, KRIT1, PDCD10) Molecular Diagnostics / PCR
(CFTR) (CFTR) Molecular Diagnostics / PCR
(COL1A1, COL1A2, COL2A1, EVC2, FGFR3) (COL1A1, COL1A2, COL2A1, EVC2, FGFR3) Molecular Diagnostics / PCR
(CSF1R) (CSF1R) Molecular Diagnostics / PCR
(CYP21, CYP11, HSD3B2) (CYP21, CYP11, HSD3B2) Molecular Diagnostics / PCR
(DCX, LIS1, TUBA1A) (DCX, LIS1, TUBA1A) Molecular Diagnostics / PCR
(DHCR7, EVC, EVC2, FGFR2, OFD1) (DHCR7, EVC, EVC2, FGFR2, OFD1) Molecular Diagnostics / PCR
(DYNC1H1, GRIN2B, PAFAH1B1, POMGnt1, TUBA1A, TUBB2B) (DYNC1H1, GRIN2B, PAFAH1B1, POMGnt1, TUBA1A, TUBB2B) Molecular Diagnostics / PCR
(EDA, EDAR, EDARADD, WNT10A) (EDA, EDAR, EDARADD, WNT10A) Molecular Diagnostics / PCR
(EDA, EDAR, WNT10A, EDARADD) (EDA, EDAR, WNT10A, EDARADD) Molecular Diagnostics / PCR
(EFNB1) (EFNB1) Molecular Diagnostics / PCR
(EIF2B1, EIF2B2, EIF2B3, EIF2B5) (EIF2B1, EIF2B2, EIF2B3, EIF2B5) Molecular Diagnostics / PCR
(EIF2B5) (EIF2B5) Molecular Diagnostics / PCR
(EVC, EVC2) (EVC, EVC2) Molecular Diagnostics / PCR
(EYA1, SIX5, SIX1) (EYA1, SIX5, SIX1) Molecular Diagnostics / PCR
(FAT4) (FAT4) Molecular Diagnostics / PCR
(FGFR1, FGFR2, FGFR3) (FGFR1, FGFR2, FGFR3) Molecular Diagnostics / PCR
(FGFR2, FGFR3, FGF10) (FGFR2, FGFR3, FGF10) Molecular Diagnostics / PCR
(FGFR3) (FGFR3) Molecular Diagnostics / PCR
(FLNA) (FLNA) Molecular Diagnostics / PCR
(FLNA, ARFGEF2, SHOC2) (FLNA, ARFGEF2, SHOC2) Molecular Diagnostics / PCR
(FLNB) (FLNB) Molecular Diagnostics / PCR
(FLVCR2) (FLVCR2) Molecular Diagnostics / PCR
(FMO3) (FMO3) Molecular Diagnostics / PCR
(FOXG1) (FOXG1) Molecular Diagnostics / PCR
(FOXP3) (FOXP3) Molecular Diagnostics / PCR
(FSHR) (FSHR) Molecular Diagnostics / PCR
(G6PD) (G6PD) Molecular Diagnostics / PCR
(GLI3) (GLI3) Molecular Diagnostics / PCR
(GPC3, GPC4) (GPC3, GPC4) Molecular Diagnostics / PCR
(GPC3, GPC4, OFD1) (GPC3, GPC4, OFD1) Molecular Diagnostics / PCR
(GPR56, TUBB2B, SRPX2, TUBB(5)) (GPR56, TUBB2B, SRPX2, TUBB(5)) Molecular Diagnostics / PCR
(HEPACAM, MLC1, COL4A1) (HEPACAM, MLC1, COL4A1) Molecular Diagnostics / PCR
(HOXA2) (HOXA2) Molecular Diagnostics / PCR
(HTRA1) (HTRA1) Molecular Diagnostics / PCR
(IRF6, GRHL3) (IRF6, GRHL3) Molecular Diagnostics / PCR
(KAL1, FGFR1, PROK2, PROKR2, FGF8) (KAL1, FGFR1, PROK2, PROKR2, FGF8) Molecular Diagnostics / PCR
(KCC3) (KCC3) Molecular Diagnostics / PCR
(KIF7) (KIF7) Molecular Diagnostics / PCR
(L1CAM) (L1CAM) Molecular Diagnostics / PCR
(LHCGR) (LHCGR) Molecular Diagnostics / PCR
(LIPA) (LIPA) Molecular Diagnostics / PCR
(LIS1, DCX, TUBA1A, TUBG1, NDE1) (LIS1, DCX, TUBA1A, TUBG1, NDE1) Molecular Diagnostics / PCR
(LRRK2, PARK2, PARK7, SNCA, VPS35) (LRRK2, PARK2, PARK7, SNCA, VPS35) Molecular Diagnostics / PCR
(NOTCH3) (NOTCH3) Molecular Diagnostics / PCR
(OPHN1) (OPHN1) Molecular Diagnostics / PCR
(OTX2, SOX2) (OTX2, SOX2) Molecular Diagnostics / PCR
(PARK2, PARK7, PINK1, SNCA) (PARK2, PARK7, PINK1, SNCA) Molecular Diagnostics / PCR
(POMGnT1, POMT2, POMT1, Fukutin, FKRP, ISPD, POMK) (POMGnT1, POMT2, POMT1, Fukutin, FKRP, ISPD, POMK) Molecular Diagnostics / PCR
(POR, FGFR2) (POR, FGFR2) Molecular Diagnostics / PCR
(PROP1, GLI2, HESX1, OTX2, GH1) (PROP1, GLI2, HESX1, OTX2, GH1) Molecular Diagnostics / PCR
(PTCH1, PTCH2, SUFU) (PTCH1, PTCH2, SUFU) Molecular Diagnostics / PCR
(RANBP2) (RANBP2) Molecular Diagnostics / PCR
(Regionen laut MLPA-Kit) (Regionen laut MLPA-Kit) Molecular Diagnostics / PCR
(SACS) (SACS) Molecular Diagnostics / PCR
(SF3B4, DHODH) (SF3B4, DHODH) Molecular Diagnostics / PCR
(SHH, SIX3, ZIC2, TGIF, GLI2, HESX1, EMX2, NODAL) (SHH, SIX3, ZIC2, TGIF, GLI2, HESX1, EMX2, NODAL) Molecular Diagnostics / PCR
(SLC26A2) (SLC26A2) Molecular Diagnostics / PCR
(SPG4, SPG3A, SPG31) (SPG4, SPG3A, SPG31) Molecular Diagnostics / PCR
(SPG7, SPG20, CYP7B1, SPG15, SPG14, SPG21, SPG26) (SPG7, SPG20, CYP7B1, SPG15, SPG14, SPG21, SPG26) Molecular Diagnostics / PCR
(TCOF1, POLR1D, POLR1C, EFTUD2) (TCOF1, POLR1D, POLR1C, EFTUD2) Molecular Diagnostics / PCR
(TFAP2A) (TFAP2A) Molecular Diagnostics / PCR
(THRB) (THRB) Molecular Diagnostics / PCR
(TREX1, OCLN) (TREX1, OCLN) Molecular Diagnostics / PCR
(TRIP11) (TRIP11) Molecular Diagnostics / PCR
(TUBB3) (TUBB3) Molecular Diagnostics / PCR
(TWIST, FGFR3) (TWIST, FGFR3) Molecular Diagnostics / PCR
(ZIC3, NODAL) (ZIC3, NODAL) Molecular Diagnostics / PCR
(p63) (p63) Molecular Diagnostics / PCR
22q11.2-Mikrodeletionssyndrom 22q11.2-Mikrodeletionssyndrom Molecular Diagnostics / PCR
ARXopathien ARXopathien Molecular Diagnostics / PCR
ATP7B; Morbus Wilson ATP7B; Morbus Wilson Molecular Diagnostics / PCR
AZF-Deletion AZF-Deletion Molecular Diagnostics / PCR
Achondrogenesis 1a Achondrogenesis 1a Molecular Diagnostics / PCR
Achondroplasie Achondroplasie Molecular Diagnostics / PCR
Acrofaziale Dysostose Acrofaziale Dysostose Molecular Diagnostics / PCR
Adrenogenitales Syndrom Adrenogenitales Syndrom Molecular Diagnostics / PCR
Agenesie/Hypoplasie Corpus Agenesie/Hypoplasie Corpus Molecular Diagnostics / PCR
Aicardie-Goutieres-Syndrom Aicardie-Goutieres-Syndrom Molecular Diagnostics / PCR
Andermann-Syndrom Andermann-Syndrom Molecular Diagnostics / PCR
Androgeninsensitivität Androgeninsensitivität Molecular Diagnostics / PCR
Anophthalmie/ Mikrophthalmie Anophthalmie/ Mikrophthalmie Molecular Diagnostics / PCR
Antley-Bixler-Syndrom Antley-Bixler-Syndrom Molecular Diagnostics / PCR
Ataxie Spastische Ataxie Molecular Diagnostics / PCR
Bainbridge-Ropers Syndrom Bainbridge-Ropers-Syndrom Molecular Diagnostics / PCR
Basalzellnävus-Syndrom Basalzellnävus-Syndrom Molecular Diagnostics / PCR
Branchio-Okulo-Faziales Branchio-Okulo-Faziales Molecular Diagnostics / PCR
Branchio-oto-renale Dysplasie Branchio-oto-renale Dysplasie Molecular Diagnostics / PCR
CADASIL Syndrom NOTCH3; CADASIL-Syndrom Molecular Diagnostics / PCR
CARASIL-Syndrom CARASIL-Syndrom Molecular Diagnostics / PCR
CBAVD CBAVD Molecular Diagnostics / PCR
Cerebrale Kavernöse Cerebrale Kavernöse Molecular Diagnostics / PCR
Cholestase intrahepatische Cholestase Molecular Diagnostics / PCR
Cholestase Schwangerschaftscholestase Molecular Diagnostics / PCR
Cholestase bei niedriger Cholestase bei niedriger Molecular Diagnostics / PCR
Chromosomenstörungen Chromosomenstörungen Molecular Diagnostics / PCR
Collins-Syndrom Collins-Syndrom Molecular Diagnostics / PCR
Defekte Defekte Molecular Diagnostics / PCR
Dehydrogenase-Mangel Dehydrogenase-Mangel Molecular Diagnostics / PCR
Double Cortex Double cortex Molecular Diagnostics / PCR
Dubin-Johnson-Syndrom Dubin-Johnson-Syndrom Molecular Diagnostics / PCR
Dysplasien Dysplasien Molecular Diagnostics / PCR
Ektodermale Dysplasie Ektodermale-Dysplasie Molecular Diagnostics / PCR
Ellis-van Creveld Syndrom Ellis-van Creveld Syndrom Molecular Diagnostics / PCR
Enteropathie, X-chromosomal Enteropathie, X-chromosomal Molecular Diagnostics / PCR
Enzephalopathie, akute, infektionsinduzierte Enzephalopathie, akute, infektionsinduzierte Molecular Diagnostics / PCR
FAT4 -assoziierte Erkrankungen FAT4 -assoziierte Erkrankungen Molecular Diagnostics / PCR
FGFR-assoziierte Kraniosynostosen FGFR-assoziierte Kraniosynostosen Molecular Diagnostics / PCR
FLNA-assoziierte Skelettdysplasien FLNA-assoziierte Skelettdysplasien Molecular Diagnostics / PCR
FLNB-assoziierte Skelettdysplasien FLNB-assoziierte Skelettdysplasien Molecular Diagnostics / PCR
FOXG1-assoziierte Enzephalopathie FOXG1-assoziierte Enzephalopathie Molecular Diagnostics / PCR
Familiäre Candidose, Typ Familiäre Candidose, Typ Molecular Diagnostics / PCR
Frontotemporale Demenz Frontotemporale Demenz Molecular Diagnostics / PCR
GLI3-assoziierte Erkrankungen GLI3-assoziierte Erkrankungen Molecular Diagnostics / PCR
Geschlechtschromosomen Geschlechtschromosomen Molecular Diagnostics / PCR
Gliedergürtel-Muskeldystrophien Gliedergürtelmuskeldystrophien Molecular Diagnostics / PCR
Glut1-Defizienz-Syndrom Glut1-Defizienz-Syndrom Molecular Diagnostics / PCR
Hereditäre spastische Paraplegie Hereditäre spastische Paraplegie Molecular Diagnostics / PCR
Heterotaxie assoziiert mit Heterotaxie assoziiert mit Molecular Diagnostics / PCR
Heterotopien Heterotopien Molecular Diagnostics / PCR
Hirnentwicklungsstörung Hirnentwicklungsstörung Molecular Diagnostics / PCR
Hirnfehlbildungen Hirnfehlbildungen Molecular Diagnostics / PCR
Holoprosenzephalie Holoprosenzephalie Molecular Diagnostics / PCR
Holoprosenzephalie-Spektrum Holoprosenzephalie-Spektrum Molecular Diagnostics / PCR
Hormonstörungen Hormonstörungen Molecular Diagnostics / PCR
Hydranenzephalie bzw. Hydranenzephalie bzw. Molecular Diagnostics / PCR
Hydrozephalus X-chromosomaler Hydrozephalus Molecular Diagnostics / PCR
Hydrozephalus X-chromosomal Hydrozephalus X-chromosomal Molecular Diagnostics / PCR
Hypercholanämie Hypercholanämie Molecular Diagnostics / PCR
Hypergonadotrope vorzeitige Hypergonadotrope vorzeitige Molecular Diagnostics / PCR
Hypochondroplasie Hypochondroplasie Molecular Diagnostics / PCR
Hypohidrotische ektodermale Hypohidrotische ektodermale Molecular Diagnostics / PCR
Hypopituitarismus Hypopituitarismus Molecular Diagnostics / PCR
Immundysregulation, Polyendokrinopathie und Immundysregulation, Polyendokrinopathie und Molecular Diagnostics / PCR
Infantile und neonatale Infantile und neonatale Molecular Diagnostics / PCR
KIF7-assoziierte Erkrankungen KIF7-assoziierte Erkrankungen Molecular Diagnostics / PCR
Kalzifizierung, intrazerebrale Kalzifizierung, intrazerebrale Molecular Diagnostics / PCR
Kleinhirnhypoplasie Kleinhirnhypoplasie Molecular Diagnostics / PCR
Kongenitale Gallensäure-Synthese Kongenitale Gallensäure-Synthese Molecular Diagnostics / PCR
Kopienzahlveränderungen Kopienzahlveränderungen Molecular Diagnostics / PCR
Kraniofrontonasale Dysplasie Kraniofrontonasale Dysplasie Molecular Diagnostics / PCR
LADD LADD Molecular Diagnostics / PCR
LH/CG-Rezeptor-assoziierte LH/CG-Rezeptor-assoziierte Molecular Diagnostics / PCR
Leukenzephalopathie Leukenzephalopathie Molecular Diagnostics / PCR
Leukenzephalopathie mit Leukenzephalopathie mit Molecular Diagnostics / PCR
Leukoencephalopathie Leukoencephalopathie Molecular Diagnostics / PCR
Lissenzephalie Lissenzephalie Molecular Diagnostics / PCR
Lissenzephalie Typ 1 Lissenzephalie Typ 1 Molecular Diagnostics / PCR
Lissenzephalie mit Lissenzephalie mit Molecular Diagnostics / PCR
Malformationen Malformationen Molecular Diagnostics / PCR
Markeranalyse STR-Markeranalyse Molecular Diagnostics / PCR
Megalencephale Megalencephale Molecular Diagnostics / PCR
Mentale Retardierung Mentale Retardierung Molecular Diagnostics / PCR
Metachromatische Leukodystrophie Metachromatische Leukodystrophie Molecular Diagnostics / PCR
Mikrotie Mikrotie Molecular Diagnostics / PCR
Mikrozephalie Mikrozephalie Molecular Diagnostics / PCR
Monogene Erkrankungen Monogene Erkrankungen Molecular Diagnostics / PCR
Mukoviszidose Mukoviszidose Molecular Diagnostics / PCR
Ovarialinsuffizienz, vorzeitige Ovarialinsuffizienz, vorzeitige Molecular Diagnostics / PCR
P63-assoziierte Erkrankungen P63-assoziierte Erkrankungen Molecular Diagnostics / PCR
PPS PPS Molecular Diagnostics / PCR
Parkinson early onset Parkinson early onset Molecular Diagnostics / PCR
Parkinson klassisch Parkinson klassisch Molecular Diagnostics / PCR
Parkinsonismus (MAPT) Parkinsonismus (MAPT) Molecular Diagnostics / PCR
Periventrikuläre noduläre Periventrikuläre noduläre Molecular Diagnostics / PCR
Pflasterstein-Lissenzephalie Pflasterstein-Lissenzephalie Molecular Diagnostics / PCR
Polydaktylie postaxial Polydaktylie postaxial Molecular Diagnostics / PCR
Polymikrogyrie Polymikrogyrie Molecular Diagnostics / PCR
Pontozerebelläre Hypoplasie Pontozerebelläre Hypoplasie Molecular Diagnostics / PCR
Popliteale Pterygium-Syndrom Popliteale Pterygium-Syndrom Molecular Diagnostics / PCR
Porenzephalie oder Porenzephalie oder Molecular Diagnostics / PCR
Primäre Mikrozephalie autosomal Primäre Mikrozephalie autosomal Molecular Diagnostics / PCR
Primäre Mikrozephalie, rezessiv Primäre Mikrozephalie, rezessiv Molecular Diagnostics / PCR
Progressive Familiäre Progressive Familiäre Molecular Diagnostics / PCR
SLC26A2-assoziierte SLC26A2-assoziierte Molecular Diagnostics / PCR
SPG11;V. a. spastische Paraplegie SPG11;V. a. spastische Paraplegie Molecular Diagnostics / PCR
Saethre-Chotzen-Syndrom Saethre-Chotzen-Syndrom Molecular Diagnostics / PCR
Schilddrüsenhormon-Resistenz Schilddrüsenhormonresistenz Molecular Diagnostics / PCR
Schizenzephalie Schizenzephalie Molecular Diagnostics / PCR
Septo-optische Dysplasie Septooptische Dysplasie Molecular Diagnostics / PCR
Simpson-Golabi-Behmel Syndrom Simpson-Golabi-Behmel-Syndrom Molecular Diagnostics / PCR
Skelettdysplasie fetal Skelettdysplasie fetal Molecular Diagnostics / PCR
Spheroiden (HDLS) Spheroiden (HDLS) Molecular Diagnostics / PCR
Steatosis Hepatis im Kindesalter Steatosis Hepatis im Kindesalter Molecular Diagnostics / PCR
Syndrom (Fowler-Syndrom) Syndrom (Fowler-Syndrom) Molecular Diagnostics / PCR
TUBB3-assoziierte komplexe TUBB3-assoziierte komplexe Molecular Diagnostics / PCR
Thanatophore Dysplasie Thanatophore Dysplasie Molecular Diagnostics / PCR
Trimethylaminurie Trimethylaminurie Molecular Diagnostics / PCR
Van der Woude-Syndrom Van der Woude-Syndrom Molecular Diagnostics / PCR
Walker-Warburg-Syndrom Walker-Warburg-Syndrom Molecular Diagnostics / PCR
X-chromosomal mit X-chromosomal mit Molecular Diagnostics / PCR
Zerebrale kavernöse Zerebrale kavernöse Molecular Diagnostics / PCR
autosomal-dominant autosomal-dominant Molecular Diagnostics / PCR
autosomal-dominant vererbte autosomal-dominant vererbte Molecular Diagnostics / PCR
autosomal-rezessiv autosomal-rezessiv Molecular Diagnostics / PCR
callosum (CREBBP, DCC, POMT1, POMT2, SHH, SIX3, TUBA1A, TUBB2B) callosum (CREBBP, DCC, POMT1, POMT2, SHH, SIX3, TUBA1A, TUBB2B) Molecular Diagnostics / PCR
congenitale Muskeldystrophien congenitale Muskeldystrophien Molecular Diagnostics / PCR
digitales Syndrom IV digitales Syndrom IV Molecular Diagnostics / PCR
erbliche diffuse erbliche diffuse Molecular Diagnostics / PCR
familiäre intrahepatische familiäre intrahepatische Molecular Diagnostics / PCR
kortikale Mikrationsstörungen kortikale Mikrationsstörungen Molecular Diagnostics / PCR
linked linked Molecular Diagnostics / PCR
nekrotisierende nekrotisierende Molecular Diagnostics / PCR
numerische numerische Molecular Diagnostics / PCR
spontane ovarielle Überstimulation spontane ovarielle Überstimulation Molecular Diagnostics / PCR
sporadisch sporadisch Molecular Diagnostics / PCR
(Chromosomen 13, 18 und (Chromosomen 13, 18 und Other
DISP1, FGF8, FGFR1, GLI2, SIX3, SUFU, TGIF1, ZIC2) DISP1, FGF8, FGFR1, GLI2, SIX3, SUFU, TGIF1, ZIC2) Other
FKTN, GPR56, ISPD, LARGE, POMGnT1, POMT1, POMT2, TMEM5) FKTN, GPR56, ISPD, LARGE, POMGnT1, POMT1, POMT2, TMEM5) Other
IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) Other
LAL-Defizienz (Mangel an LAL-Defizienz (Mangel an Other
NIPA1, REEP1, SLC33A1, ZFYVE27) NIPA1, REEP1, SLC33A1, ZFYVE27) Other
PAFAH1B1, ARX, TUBA1A, TUBG1, DYNC1H1) PAFAH1B1, ARX, TUBA1A, TUBG1, DYNC1H1) Other
PLP1, SLC16A2) PLP1, SLC16A2) Other
POMGnT1, POMK, POMT1, TMEM5) POMGnT1, POMK, POMT1, TMEM5) Other
TUBA1A, TUBB, TUBB2B, WDR62) TUBA1A, TUBB, TUBB2B, WDR62) Other
lysosomaler saurer Lipase) lysosomaler saurer Lipase) Other

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