ErkrankungLippen-Kiefer-Gaumen-(Gesichts-)Spalten, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 141 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Formen von Lippen-Kiefer-Gaumen(-Gesichts-)Spalten
ID
LP6464
Anzahl Gene
140
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,7 kb (Core-/Basis-Gene)
415,1 kb (Erweitertes Panel)
415,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
COL11A1 | 5421 | AD und/oder AR | |
COL2A1 | 4464 | AD | |
COL9A1 | 2766 | AD und/oder AR | |
ACTB | 1128 | AD | |
ACTG1 | 1128 | AD | |
AMER1 | 3408 | XL | |
ANKRD11 | 7992 | AD | |
ARHGAP29 | 3786 | AD | |
ARHGAP31 | 4335 | AD | |
ASXL1 | 4626 | AD und/oder SMu | |
B3GLCT | 1497 | AR | |
BCOR | 5166 | XLD und/oder SMu | |
BMP2 | 1191 | AD und/oder AR | |
C2CD3 | 5892 | AR | |
CC2D2A | 4863 | AR | |
CDH1 | 2649 | AD und/oder SMu und/oder Sus | |
CDKN1C | 951 | AD und/oder Sus | |
CHD7 | 8994 | AD und/oder Impr | |
CHRNG | 1554 | AR | |
CHST14 | 1131 | AR | |
CILK1 | 1899 | AR | |
COL11A2 | 5211 | AD und/oder AR | |
COLEC10 | 840 | AR | |
COLEC11 | 744 | AR | |
CPLANE1 | 9864 | AR | |
CTCF | 1200 | AD | |
CTNND1 | 2907 | AD | |
DHCR7 | 1428 | AR | |
DHODH | 1188 | AR | |
DLL4 | 2058 | AD | |
DOCK6 | 6144 | AR | |
DVL1 | 2013 | AD | |
DVL3 | 2261 | AD | |
DYNC2H1 | 12945 | AR und/oder Dig | |
DYNC2LI1 | 1438 | AR | |
EBP | 693 | XL | |
EDNRA | 1284 | AD und/oder Mult | |
EFNB1 | 1041 | XLD | |
EFTUD2 | 2919 | AD | |
EIF2S3 | 1419 | XLR | |
EIF4A3 | 1236 | AR | |
EOGT | 1584 | AR | |
EPG5 | 7740 | AR | |
ESCO2 | 1806 | AR | |
EYA1 | 1779 | AD | |
FAM20C | 1755 | AR | |
FGD1 | 2886 | XLR | |
FGFR1 | 2469 | AD und/oder Dig | |
FGFR2 | 2466 | AD und/oder Sus | |
FLNA | 7920 | XL | |
FLNB | 7809 | AD und/oder AR | |
FOXC2 | 1506 | AD | |
FRAS1 | 12039 | AR | |
GJA1 | 1149 | AD und/oder AR | |
GLI3 | 4743 | AD | |
GPC3 | 1743 | XLR und/oder SMu und/oder Sus | |
GRHL3 | 1671 | AD | |
HDAC8 | 1134 | XLD | |
HYLS1 | 900 | AR | |
IFT140 | 4389 | AR | |
IFT172 | 5250 | AR | |
IFT80 | 2334 | AR | |
IMPAD1 | 1085 |
| AR |
IRF6 | 1404 | AD | |
KAT6A | 6015 | AD und/oder Impr | |
KCNJ2 | 1284 | AD | |
KDM6A | 4206 | XLD und/oder Impr | |
KIAA0586 | 5005 | AR | |
KIF7 | 4032 | AR und/oder Dig | |
KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
MAP3K7 | 1838 | AD | |
MAPRE2 | 855 | AD | |
MASP1 | 2187 | AR | |
MBTPS2 | 1560 | XLR | |
MEIS2 | 1413 | AD | |
MID1 | 2004 | XLR | |
MKS1 | 1680 | AR | |
MSX1 | 912 | AD | |
MYMK | 671 | AR | |
NECTIN1 | 1554 | AR | |
NEDD4L | 2868 | AD | |
NEK1 | 3777 | AD und/oder AR und/oder Dig und/oder Sus | |
NIPBL | 8415 | AD und/oder Impr | |
NOTCH1 | 7668 | AD und/oder SMu | |
OFD1 | 3039 | XL | |
PAX3 | 1440 | AD und/oder AR und/oder SMu und/oder Gen Fusion | |
PHF8 | 3075 | XLR | |
PIEZO2 | 8259 | AD und/oder AR | |
PIGN | 2796 | AR | |
PIGV | 1482 | AR | |
POLR1C | 1041 | AR | |
POLR1D | 402 | AD und/oder AR | |
PORCN | 1386 | XLD | |
PTCH1 | 4344 | AD und/oder SMu | |
RBM10 | 2793 | XLR | |
ROR2 | 2832 | AD und/oder AR | |
RPL5 | 894 | AD | |
RPS26 | 348 | AD | |
SALL4 | 3162 | AD | |
SATB2 | 2202 | AD | |
SCARF2 | 2613 | AR | |
SF3B4 | 1275 | AD | |
SHH | 1389 | AD und/oder Dig | |
SIX1 | 855 | AD | |
SIX3 | 999 | AD und/oder AR | |
SIX5 | 2220 | AD | |
SKI | 2187 | AD | |
SLC26A2 | 2220 | AR | |
SMAD3 | 1278 | AD | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
SMC1A | 3702 | XLD und/oder Impr | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
SMS | 942 | XLR und/oder Impr | |
SNRPB | 696 | AD | |
SON | 7556 | AD | |
SOX9 | 1530 | AD | |
SPECC1L | 3354 | AD | |
STAMBP | 1275 | AR | |
TBX22 | 1563 | XL | |
TCOF1 | 4467 | AD | |
TCTN3 | 1824 | AR | |
TELO2 | 2514 | AR | |
TFAP2A | 1296 | AD | |
TGDS | 1053 | AR | |
TGFB3 | 1239 | AD | |
TGFBR1 | 1512 | AD | |
TGFBR2 | 1704 | AD | |
TMCO1 | 720 | AR | |
TP63 | 2043 | AD und/oder Sus | |
TRAPPC9 | 3741 | AR und/oder Dig | |
TRIM37 | 2895 | AR und/oder Sus | |
TUBB | 1335 | AD | |
TXNL4A | 429 | AR | |
USP9X | 7713 | XLD und/oder XLR | |
WNT5A | 1143 | AD und/oder Sus | |
XYLT1 | 2880 | AR | |
ZEB2 | 3645 | AD | |
ZIC2 | 1599 | AD | |
ZIC3 | 1404 | XLR | |
ZSWIM6 | 3648 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- (Syndromic) clefting
- Familial non-syndromic cleft lip and/or familial cleft palate
- Familial non-syndromic clefting
- Syndromic cleft lip and/or cleft palate
- Allelic: Triatrial heart [MONDO:0015450] (HYAL2)
- 3MC syndrome 1 (MASP1)
- 3MC syndrome 3 (COLEC10)
- ADULT syndrome (TP63)
- Aarskog-Scott syndrome (FGD1)
- Abruzzo-Erickson syndrome (TBX22)
- Acampomelic campomelic dysplasia (SOX9)
- Achondrogenesis Ib (SLC26A2)
- Achondrogenesis, type II or hypochondrogenesis (COL2A1)
- Acrocallosal syndrome (KIF7)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- Acromelic frontonasal dysostosis (ZSWIM6)
- Adams-Oliver syndrome 1 (ARHGAP31)
- Adams-Oliver syndrome 2 (DOCK6)
- Adams-Oliver syndrome 4 (EOGT)
- Adams-Oliver syndrome 5 (NOTCH1)/Aortic valve disease 1 (NOTCH1)
- Adams-Oliver syndrome 6 (DLL4)
- Al-Gazali-Bakalinova syndrome (KIF7)
- Andersen syndrome (KCNJ2)
- Anterior segment anomalies with/-out cataract (EYA1)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Aortic valve disease 1 (NOTCH1)
- Apert syndrome (FGFR2)
- Arboleda-Tham syndrome (KAT6A)
- Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
- Arthrogryposis, distal, type 3 (PIEZO2)
- Arthrogryposis, distal, type 5 (PIEZO2)
- Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
- Atelosteogenesis, type I (FLNB)
- Atelosteogenesis, type II (SLC26A2)
- Atelosteogenesis, type III (FLNB)
- Atrial fibrillation, familial, 9 (KCNJ2)
- Avascular necrosis of the femoral head (COL2A1)
- Baraitser-Winter syndrome 1 (ACTB)
- Baraitser-Winter syndrome 2 (ACTG)
- Bardet-Biedl syndrome 13 (MKS1)
- Bardet-Biedl syndrome 20 (IFT172)
- Basal cell nevus syndrome (PTCH1)
- Basel-Vanagait-Smirin-Yosef syndrome (MED25)
- Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Beckwith-Wiedemann syndrome (CDKN1C)
- Bent bone dysplasia syndrome (FGFR2)
- Blepharocheilodontic syndrome 1 (CDH1)
- Blepharocheilodontic syndrome 2 (CTNND1)
- Bohring-Opitz syndrome (ASXL1)
- Boomerang dysplasia (FLNB)
- Brachydactyly, type A2 (BMP2)
- Brachydactyly, type B1(ROR2)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootic syndrome 1 (EYA1)
- Branchiootic syndrome 3 (SIX1)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- Burn-McKeown syndrome (TXNL4A)
- CHARGE syndrome (CHD7)
- COACH syndrome 2 (CC2D2A)
- Campomelic dysplasia (SOX9)
- Campomelic dysplasia with autosomal sex reversal (SOX9)
- Cardiac valvular dysplasia, XL (FLNA)
- Cardiospondylocarpofacial syndrome (MAP3K7)
- Carey-Fineman-Ziter syndrome (MYMK)
- Catel-Manzke syndrome (TGDS)
- Cerebrocostomandibular syndrome (SNRPB)
- Chondrodysplasia punctata, XLD (EBP)
- Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
- Cleft lip with/-out cleft palate [panelapp] (ARHGAP29)
- Cleft lip/palate [MONDO:0016044] (HYAL2)
- Cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
- Cleft palate with ankyloglossia (TBX22)
- Cleft palate, cardiac defects + mental retardation (MEIS2)
- Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
- Congenital short bowel syndrome (FLNA)
- Cornelia de Lange syndrome 1 (NIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 5 (HDAC8)
- Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
- Craniofacial dysmorphism, skeletal anomalies + mental retardation syndrome (TMCO1)
- Craniofacial-deafness-hand syndrome PAX3)
- Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Craniofrontonasal dysplasia (EFNB1)
- Craniosynostosis, nonspecific (FGFR2)
- Crouzon syndrome (FGFR2)
- Czech dysplasia (COL2A1)
- De la Chapelle dysplasia (SLC26A2)
- Deafness, AD 13 (COL11A2)
- Deafness, AD 20/26 (ACTG)
- Deafness, AD 23 (SIX1)
- Deafness, AD 37 (COL11A1)
- Deafness, AR 53 (COL11A2)
- Desbuquois dysplasia 2 (XYLT1)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Diamond-Blackfan anemia 10 (RPS26)
- Diamond-Blackfan anemia 6 (RPL5)
- Diastrophic dysplasia (SLC26A2)
- Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
- Duane-radial ray syndrome (SALL4)
- Dystonia, juvenile-onset (ACTB)
- Ectodermal dysplasia 3, Witkop type (MSX1)
- Ectrodactyly, ectodermal dysplasia + cleft lip
- Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
- Endocrine-cerebroosteodysplasia (CILK1)
- Epiphyseal dysplasia, multiple, 4 (SLC26A2)
- Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
- Escobar syndrome (CRNG)
- FG syndrome 2 (FLNA)
- Facial clefting, oblique, 1 (SPECC1L)
- Fibrochondrogenesis 1 (COL11A1)
- Fibrochondrogenesis 2 (COL11A2)
- Focal dermal hypoplasia (PORCN)
- Fraser syndrome 1 (FRAS1)
- Frontometaphyseal dysplasia (MAP3K7)
- Frontometaphyseal dysplasia 1 (FLNA)
- Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
- Glass syndrome (SATB2)
- Goldberg-Shprintzen megacolon syndrome (KIFBP)
- Greig cephalopolysyndactyly syndrome (GLI3)
- Hartsfield syndrome (FGFR1)
- Hay-Wells syndrome (TP63)
- Heterotaxy, visceral, 1, XL (ZIC3)
- Heterotopia, periventricular, 1 (FLNA)
- Holoprosencephaly 2 SIX3)
- Holoprosencephaly 3 (SHH)
- Holoprosencephaly 5 (ZIC2)
- Holoprosencephaly 7 (PTCH1)
- Hydrolethalus syndrome (HYLS1)
- Hydrolethalus syndrome 2 (KIF7)
- Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
- Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
- IMAGE syndrome (CDKN1C)
- IVIC syndrome (SALL4)
- Intellectual developmental disorder, XL 99 (USP9X)
- Intellectual developmental disorder, XL 99, syndromic, female-restricted (USP9X)
- Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
- Intellectual developmental disorder, XL, syndromic, Siderius type (PHF8)
- Intestinal pseudoobstruction, neuronal (FLNA)
- Jackson-Weiss syndrome (FGFR1)
- Jackson-Weiss syndrome (FGFR2)
- Joubert syndrome 10 (OFD1)
- Joubert syndrome 12 (KIF7)
- Joubert syndrome 17 (C5orf42)
- Joubert syndrome 18 (TCTN3)
- Joubert syndrome 23 (KIAA0586)
- Joubert syndrome 28 (MKS1)
- Joubert syndrome 9 (CC2D2A)
- Juberg-Hayward syndrome (ESCO2)
- Juvenile polyposis
- KBG syndrome (ANKRD11)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
- Kniest dysplasia (COL2A1)
- LADD syndrome (FGFR2)
- Larsen syndrome (FLNB)
- Legg-Calve-Perthes disease (COL2A1)
- Leukodystrophy, hypomyelinating, 11 (POLR1C
- Limb-mammary syndrome (TP63)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 5 (TGFB3)
- Lymphedema-distichiasis syndrome (FOXC2)
- Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
- MEHMO syndrome (EIF2S3)
- MEND syndrome (EBP)
- Mandibulofacial dysostosis with alopecia (EDNRA)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Marden-Walker syndrome (PIEZO2)
- Marshall syndrome (COL11A1)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 6 (CC2D2A)
- Melnick-Needles syndrome (FLNA)
- Mental retardation, AD 21 (CTCF(`)
- Mental retardation, AR 13 (TRAPPC9)
- Mental retardation, XL syndromic 16 (FGD1)
- Microcephaly-capillary malformation syndrome (STAMBP)
- Microphthalmia with coloboma 5 (SHH)
- Microphthalmia, syndromic 2 (BCOR)
- Miller syndrome (DHODH)
- Mowat-Wilson syndrome (ZEB2)
- Mulibrey nanism (TRIM37)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
- Multiple pterygium syndrome, lethal type (CRNG)
- Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
- Myhre syndrome (SMAD4) 3
- Neurodevelopmental disorder with movement abnormalities, abnormal gait, autistic features (ZSWIM6)
- Olmsted syndrome, XL (MBTPS2)
- Opitz GBBB syndrome, type I (MID1)
- Opitz GBBB syndrome, type II (SPECC1L)
- Orofacial cleft 5 (MSX1)
- Orofacial cleft 6 (IRF6)
- Orofacial cleft 7 (NECTIN1)
- Orofacial cleft 8 (TP63)
- Orofaciodigital syndrome I (OFD1)
- Orofaciodigital syndrome IV (TCTN3)
- Orofaciodigital syndrome VI (C5orf42)
- Orofaciodigital syndrome XIV (C2CD3)
- Osteoarthritis with mild chondrodysplasia (COL2A1)
- Osteogenesis imperfecta, type XIX (MBTPS2)
- Osteoglophonic dysplasia (FGFR1)
- Osteopathia striata with cranial sclerosis (AMER1)
- Otofaciocervical syndrome (EYA1)
- Otopalatodigital syndrome, type I (FLNA)
- Otopalatodigital syndrome, type II (FLNA)
- Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
- Pallister-Hall syndrome (GLI3)
- Periventricular nodular heterotopia 7 (NEDD4L)
- Peters-plus syndrome (B3GLCT)
- Pfeiffer syndrome (FGFR1)
- Pfeiffer syndrome (FGFR2)
- Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
- Polydactyly, postaxial, types A1 + B (GLI3)
- Polydactyly, preaxial, type IV (GLI3)
- Polyposis, juvenile intestinal (SMAD4)
- Popliteal pterygium syndrome 1 (IRF6)
- Raine syndrome (FAM20C)
- Rapp-Hodgkin syndrome (TP63)
- Retinitis pigmentosa 23 (OFD1)
- Retinitis pigmentosa 71 (IFT172)
- Retinitis pigmentosa 80 (IFT140)
- Rhabdomyosarcoma 2, alveolar (PAX3)
- Roberts-SC phocomelia syndrome (ESCO2)
- Robin sequence with cleft mandible + limb anomalies (EIF4A3)
- Robinow syndrome, AD 1 (WNT5A)
- Robinow syndrome, AD 2 (DVL1)
- Robinow syndrome, AD 3 (DVL3)
- Robinow syndrome, AR (ROR2)
- SED congenita (COL2A1)
- SMED Strudwick type (COL2A1)
- Saethre-Chotzen syndrome (FGFR2)
- Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
- Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
- Schizencephaly (SHH)
- Schizencephaly (SIX3)
- Short QT syndrome 3 (KCNJ2)
- Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
- Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
- Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
- Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
- Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
- Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
- Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
- Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
- Shprintzen-Goldberg syndrome (SKI)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
- Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
- Single median maxillary central incisor (SHH)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Spondylocarpotarsal synostosis syndrome (FLNB)
- Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
- Spondyloperipheral dysplasia (COL2A1)
- Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type II (COL11A1)
- Stickler syndrome, type IV (COL9A1)
- Symmetric circumferential skin creases, congenital, 1 (TUBB)
- Symmetric circumferential skin creases, congenital, 2 (MAPRE2)
- TARP syndrome (RBM10)
- Teebi hypertelorism syndrome (SPECC1L)
- Terminal osseous dysplasia (FLNA)
- Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
- Treacher-Collins syndrome 4 (POLR1B)
- Trigonocephaly 1 (FGFR1)
- VACTERL association, XL (ZIC3)
- VICI syndrome (EPG5)
- Van den Ende-Gupta syndrome (SCARF2)
- Van der Woude syndrome (IRF6)
- Van der Woude syndrome 2 (GRHL3)
- Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
- Waardenburg syndrome, type 1 (PAX3)
- Waardenburg syndrome, type 3 (PAX3)
- You-Hoover-Fong syndrome (TELO2)
- ZTTK syndrome (SON)
- foot malformation 4 (TP63)
- hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- palate syndrome 3 (TP63)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder SMu und/oder Gen Fusion
- AD und/oder Dig
- AD und/oder Impr
- AD und/oder Mult
- AD und/oder SMu
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus
- AD und/oder SMu und/oder Sus und/oder Impr
- AD und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- XL
- XLD
- XLD und/oder Impr
- XLD und/oder SMu
- XLD und/oder XLR
- XLR
- XLR und/oder Impr
- XLR und/oder SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q37.8
Bioinformatik und klinische Interpretation
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