MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Abnormalities, Multiple (D000015)
Parent Node:
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Arachnodactyly (D054119)
Parent Node:
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Blepharophimosis (D016569)
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Connective Tissue Diseases (D003240)
Parent Node:
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Contracture (D003286)
..Starting node
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Marden-Walker syndrome (C535910)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAlopecia contractures dwarfism mental retardation (C537051)
..expandArthropathy, Erosive (C565273)
..expandAxial mesodermal dysplasia spectrum (C537790)
..expandBethlem myopathy (C535436)
..expandBone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
..expandBowen syndrome (C538164)
..expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
..expandCongenital contractural arachnodactyly (C536211)
..expandCONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandContractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..expandDavenport Donlan syndrome (C535988)
..expandDupuytren Contracture (D004387) Child2
..expandDystonia with Ringbinden (C565608)
..expandFibromatosis, Plantar (D000071380)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHip Contracture (D006616)
..expandHistiocytosis with joint contractures and sensorineural deafness (C538322)
..expandIida Kannari syndrome (C536284)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandIschemic Contracture (D054061)
..expandLethal Congenital Contractural Syndrome 3 (C566961)
..expandMacleod Fraser syndrome (C537715)
..expandMarden Walker like syndrome (C535909)
..expandMarden-Walker syndrome (C535910)
..expandMental retardation Mietens Weber type (C537444)
..expandMental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandMuscular dystrophy, tardive Emery-Dreifuss type, with contractures (C535734)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSpastic Paraplegia 18, Autosomal Recessive (C567628)
..expandSpondylospinal Thoracic Dysostosis (C566622)
..expandStiff Skin Syndrome (C566112)
..expandTight skin contracture syndrome, lethal (C536920)
..expandWieacker syndrome (C536703)
..expandWinchester syndrome (C536709)
..expandWinter Harding Hyde syndrome (C536712)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7434
Name:Marden-Walker syndrome
Definition:
Alternative IDs:OMIM:248700
ParentIDs:MESH:D000015|MESH:D003240|MESH:D003286|MESH:D016569|MESH:D054119
TreeNumbers:C05.550.323/C535910 |C05.651.197/C535910 |C05.660.585.174/C535910 |C11.250.090/C535910 |C11.338.190/C535910 |C16.131.077/C535910 |C16.131.384.190/C535910 |C16.131.621.585.174/C535910 |C17.300/C535910
Synonyms:Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly |Connective Tissue Disorder, Marden-Walker Type |Generalized connective tissue syndrome |MWKS |MWS
Slim Mappings:Congenital abnormality|Connective tissue disease|Eye disease|Musculoskeletal disease
Reference: MedGen: C535910
MeSH: C535910
OMIM: 248700;
MSeqDR LSDB:  
Genes: GALNS; GLB1; PIEZO2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000766Abnormality of the sternum
4 HP:0001274Agenesis of corpus callosum
5 HP:0000463Anteverted nares
6 HP:0001166Arachnodactyly
7 HP:0000581Blepharophimosis
8 HP:0012385Camptodactyly
9 HP:0001321Cerebellar hypoplasia
10 HP:0000175Cleft palate
11 HP:0002803Congenital contracture
12 HP:0000028Cryptorchidism
13 HP:0001305Dandy-Walker malformation
14 HP:0003199Decreased muscle mass
15 HP:0001651Dextrocardia
16 HP:0000286Epicanthus
17 HP:0005329Fixed facial expression
18 HP:0001290Generalized hypotonia
19 HP:0000218High palate
20 HP:0002705High, narrow palate
21 HP:0000316Hypertelorism
22 HP:0002365Hypoplasia of the brainstem
23 HP:0000047Hypospadias
24 HP:0007068Inferior vermis hypoplasia
25 HP:0000023Inguinal hernia
26 HP:0001249Intellectual disability
27 HP:0001511Intrauterine growth retardation
28 HP:0009473Joint contracture of the hand
29 HP:0002808Kyphosis
30 HP:0000343Long philtrum
31 HP:0000369Low-set ears
32 HP:0000252Microcephaly
33 HP:0000347Micrognathia
34 HP:0000054Micropenis
35 HP:0000568Microphthalmia
36 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
37 HP:0000160Narrow mouth
38 HP:0008897Postnatal growth retardation
39 HP:0002476Primitive reflex
40 HP:0000508Ptosis
NAMDC:  Ptosis
41 HP:0002089Pulmonary hypoplasia
42 HP:0002021Pyloric stenosis
43 HP:0002974Radioulnar synostosis
44 HP:0000089Renal hypoplasia
45 HP:0002650Scoliosis
46 HP:0001250Seizures
NAMDC:  Seizures
47 HP:0000470Short neck
48 HP:0000486Strabismus
49 HP:0001762Talipes equinovarus
50 HP:0000260Wide anterior fontanel
51 HP:0002044Zollinger-Ellison syndrome
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)63895PIEZO2Pathogenicrs587777451RCV000125479|RCV001836735; NMONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MedGen:CN517202181067172710671727GANC_000018.9:g.10671727G>AClinGen:CA163196,UniProtKB:Q9H5I5#VAR_071302,OMIM:613629.0004C0796033 248700 Marden-Walker syndrome;
NM_001378183.1(PIEZO2):c.7953-9del63895PIEZO2Benign-1RCV001669756|RCV001699593|RCV001788731|RCV001788732|RCV001788733|RCV001788734; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181067788110677881GAG10677880-
NM_001378183.1(PIEZO2):c.7952+33C>T63895PIEZO2Benign-1RCV001696121|RCV001788802|RCV001788803|RCV001788804|RCV001788805; NMedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181068016310680163GA10680163-
NM_001378183.1(PIEZO2):c.7349+31A>C63895PIEZO2Benign-1RCV001638804|RCV001788655|RCV001788656|RCV001788657|RCV001788658; NMedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181069119210691192TG10691192-
NM_001378183.1(PIEZO2):c.7349+7C>T63895PIEZO2Benignrs3748422RCV000251486|RCV001788175|RCV001788176|RCV002058317|RCV001788177|RCV001788178; NMedGen:CN169374|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MedGen:CN517202|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181069121610691216GA18:g.10691216G>AClinGen:CA8892020CN169374 not specified;
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)63895PIEZO2Benignrs3748421RCV000246739|RCV001675756|RCV001788171|RCV001788172|RCV001788173|RCV001788174; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181069135710691357GA18:g.10691357G>AClinGen:CA8892042CN169374 not specified;
NM_001378183.1(PIEZO2):c.7190+29A>G63895PIEZO2Benign-1RCV001527942|RCV001788573|RCV001788574|RCV001788575|RCV001788576; NMedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181069604310696043TC10696043-
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)63895PIEZO2Benignrs2277860RCV000241549|RCV001636816|RCV001788169|RCV001788170|RCV001788168|RCV001788167; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145,Or181069622710696227CT18:g.10696227C>TClinGen:CA8892092CN169374 not specified;
NM_001378183.1(PIEZO2):c.6976-47G>C63895PIEZO2Benign-1RCV001611571|RCV001788619|RCV001788621|RCV001788618|RCV001788620; NMedGen:CN517202|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181069633310696333CG10696333-
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)63895PIEZO2Uncertain significancers200276831RCV000500563|RCV000765400; NMedGen:CN169374|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146; MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154; MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376; MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181069914210699142CG18:g.10699142C>GClinGen:CA8892234CN169374 not specified;
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met)63895PIEZO2Uncertain significancers1005911734RCV000791194; NMONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181070448610704486GA18:g.10704486G>A-
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln)63895PIEZO2Benignrs4796901RCV000254006|RCV001723856|RCV001788166|RCV001788165|RCV001788163|RCV001788164; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300,O181070461910704619CG18:g.10704619C>GClinGen:CA8892279CN169374 not specified;
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)63895PIEZO2Benignrs7227022RCV000243948|RCV001640570|RCV001788159|RCV001788160|RCV001788161|RCV001788162; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181070574410705744GA18:g.10705744G>AClinGen:CA8892330CN169374 not specified;
NM_001378183.1(PIEZO2):c.4708+18C>T63895PIEZO2Benignrs5024299RCV000251688|RCV001636815|RCV001788155|RCV001788157|RCV001788156|RCV001788158; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,181074101110741011GA18:g.10741011G>AClinGen:CA8892423CN169374 not specified;
NM_001378183.1(PIEZO2):c.4514+32C>T63895PIEZO2Benign-1RCV001689111|RCV001788806|RCV001788808|RCV001788807|RCV001788809; NMedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181074410810744108GA10744108-
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=)63895PIEZO2Benignrs8096037RCV000246532|RCV001534408|RCV001788152|RCV001788153|RCV001788154|RCV001788151; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145,Or181074860310748603ATNC_000018.9:g.10748603A>TClinGen:CA8892454CN169374 not specified;
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met)63895PIEZO2Uncertain significancers777349822RCV000661997|RCV000661998|RCV000661999; NMONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376181075265310752653GA18:g.10752653G>A-C4310692 617146 Arthrogryposis, distal, with impaired proprioception and touch;
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile)63895PIEZO2Benignrs7234309RCV000243372|RCV001636814|RCV001788148|RCV001788150|RCV001788149|RCV001788147; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145,Or181075266610752666CTNC_000018.9:g.10752666C>TClinGen:CA8892474,UniProtKB:Q9H5I5#VAR_071039CN169374 not specified;
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=)63895PIEZO2Benignrs7407105RCV000252780|RCV001689912|RCV001788143|RCV001788144|RCV001788145|RCV001788146; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181075802310758023GANC_000018.9:g.10758023G>AClinGen:CA8892491CN169374 not specified;
NM_001378183.1(PIEZO2):c.3451-28T>C63895PIEZO2Benign-1RCV001610931|RCV001788605|RCV001788603|RCV001788602|RCV001788604; NMedGen:CN517202|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181075993510759935AG10759935-
NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His)63895PIEZO2Uncertain significancers752023399RCV001329881; NMONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181076255410762554CG10762554-
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=)63895PIEZO2Benignrs7241380RCV000242841|RCV001594917|RCV001788139|RCV001788141|RCV001788140|RCV001788142; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,181076296210762962GA18:g.10762962G>AClinGen:CA8892591CN169374 not specified;
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=)63895PIEZO2Benignrs7227167RCV000250705|RCV001610727|RCV001788135|RCV001788136|RCV001788137|RCV001788138; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,181076300710763007TCNC_000018.9:g.10763007T>CClinGen:CA8892593CN169374 not specified;
NM_001378183.1(PIEZO2):c.2947-36G>A63895PIEZO2Benign-1RCV001649971|RCV001788692|RCV001788689|RCV001788690|RCV001788691; NMedGen:CN517202|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181076313210763132CT10763132-
NM_001378183.1(PIEZO2):c.2492+48del63895PIEZO2Benign-1RCV001620656|RCV001788638|RCV001788636|RCV001788635|RCV001788637; NMedGen:CN517202|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181078473410784734GAG10784733-
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=)63895PIEZO2Benignrs6505592RCV000247552|RCV001689911|RCV001788132|RCV001788134|RCV001788131|RCV001788133; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700,Or181078704710787047GANC_000018.9:g.10787047G>AClinGen:CA8892671CN169374 not specified;
NM_001378183.1(PIEZO2):c.2170-2A>C63895PIEZO2Pathogenicrs1598479779RCV000791051|RCV000791052; NMONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181078718410787184TG18:g.10787184T>G-
NM_001378183.1(PIEZO2):c.2170-19_2170-18del63895PIEZO2Benign-1RCV001667982|RCV001788742|RCV001788744|RCV001788743|RCV001788745; NMedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146181078720010787201GAAG10787199-
NM_001378183.1(PIEZO2):c.1528-41T>C63895PIEZO2Benign-1RCV001658428|RCV001788703|RCV001788704|RCV001788705|RCV001788702; NMedGen:CN517202|MONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154181079504110795041AG10795041-
NM_001378183.1(PIEZO2):c.1379-47T>C63895PIEZO2Benign-1RCV001788791|RCV001788793|RCV001691284|RCV001788790|RCV001788792; NMONDO:MONDO:0007252,MedGen:C0220666,OMIM:114300, Orphanet:376|MONDO:MONDO:0014941,MedGen:C4310692,OMIM:617146|MedGen:CN517202|MONDO:MONDO:0007158,MedGen:C1862472,OMIM:108145, Orphanet:1154|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181079756710797567AG10797567-
NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu)63895PIEZO2Uncertain significancers760374118RCV000584968|RCV001329882; NMedGen:CN517202|MONDO:MONDO:0009564,MedGen:C0796033,OMIM:248700, Orphanet:2461181085709710857097CA18:g.10857097C>AClinGen:CA8892829CN517202 not provided;
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