Create issue ticket

1,493 Possible Causes for Genetich Heterogeneity - See Joubert Syndrome Types 1, 2, 3

Did you mean: Genetich, Heterogeneity, - See, Joubert Syndrome Types, 1, 2, 3

  • Meckel Syndrome

    It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders.[ncbi.nlm.nih.gov] In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm.[doi.org] Abstract Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene.[ncbi.nlm.nih.gov]

  • Senior-Løken Syndrome

    Joubert syndrome with oculorenal defect (JS-OR), Bardet-Biedl syndrome (BBS) and Alström syndrome (see these terms).[orpha.net] […] region gene 4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 TMEM237 ALS2CR4 614423 14432 WD repeat domain 19 WDR19 DYF-2 FLI23127 IFT144 KIAA1638[ukgtn.nhs.uk] We find that as a whole, the hosts of SLSNe are a low-luminosity ( -17.3 mag), low stellar ... (3 Apr 2013) posted to slsn sn tdf xray by ebellm on 2013-04-05 21:44:31 Abstract[citeulike.org]

  • Cystic Kidney Disease

    […] ribosylation factor-like 13B ARL2-like protein 1 ARL13B ARL2L1 608922 25419 B9 domain containing 1 B9 protein domain 1 B9D1 B9 EPPB9 MKS9 614144 24123 B9 protein domain 2[ukgtn.nhs.uk] IgG Immunogen Immunogen Between 1 and 50 Gene and Protein Information Gene Name nephrocystin 3 Gene Symbol NPHP3 Protein Name Nephrocystin-3 Ordering Information A305-050A[bethyl.com] Target CORS 3; CORS3; Fantom; FTM; JBTS 1; JBTS 7; JBTS1; JBTS7; Joubert syndrome 1; Joubert syndrome 7; Meckel syndrome, type 1; RPGRIP1-like; Meckel syndrome, type 5; MKS[biossusa.com]

  • Progressive Familial Intrahepatic Cholestasis

    Incontinentia Pigmenti IKBKG, IKBKG Infantile HyperKalzämie CYP24A1 isolated growth hormone deficiency (IGHD) GHRHR, GH1, IGF1 Jervel-Lange-Nielsen-Syndrom KCNE1, KCNQ1 Joubert[meduniwien.ac.at] A fetus with compound heterozygous missense mutation V284L and 1145delC was terminated in Family 2.[ncbi.nlm.nih.gov] Summary Epidemiology Estimated prevalence at birth of PFIC types 1-3 varies between 1/50,000 and 1/100,000. PFIC3 represents one third of PFIC cases.[orpha.net]

  • Nephronophthisis 2

    Br 2.[worldcat.org] Information Format Available Full text: PDF Request Permissions Publication History Issue online: 21 January 2008 Version of record online: 21 January 2008 Accepted Jan. 3,[onlinelibrary.wiley.com] Involvement in disease Nephronophthisis 1 Senior-Loken syndrome 1 Joubert syndrome 4 Sequence similarities Belongs to the nephrocystin-1 family. Contains 1 SH3 domain.[abcam.com]

  • Nephronophthisis 3

    AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.[ncbi.nlm.nih.gov] Br 2.[worldcat.org] It can be associated with retinitis pigmentosa (Senior-Løken syndrome), mental retardation and ataxia (Joubert syndrome), skeletal anomalies (Jeune syndrome), or situs inversus[ciliajournal.biomedcentral.com]

  • Nephronophthisis 12

    […] syndrome, Nephronophthisis TMEM107 Joubert syndrome TMEM138 Joubert syndrome TMEM216 Joubert syndrome, Meckel syndrome TMEM231 Joubert syndrome, Meckel syndrome TMEM237 Joubert[genda.com.ar] Br 2.[worldcat.org] : 10/3/2007[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    […] syndrome, Nephronophthisis TMEM107 Joubert syndrome TMEM138 Joubert syndrome TMEM216 Joubert syndrome, Meckel syndrome TMEM231 Joubert syndrome, Meckel syndrome TMEM237 Joubert[genda.com.ar] Br 2.[worldcat.org] Information Format Available Full text: PDF Request Permissions Publication History Issue online: 21 January 2008 Version of record online: 21 January 2008 Accepted Jan. 3,[onlinelibrary.wiley.com]

  • Oculomotor Apraxia

    We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders.[research-information.bristol.ac.uk] After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2.[ncbi.nlm.nih.gov] APTX restores the 5'-adenylate monophosphate, 3'-phosphates and 3'-phosphoglycolate ends.[ncbi.nlm.nih.gov]

  • Wolcott-Rallison Syndrome

    syndrome-3 608629 A IRE 21q22.3 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 A LDH3A2 17p11.2 Sjogren-Larsson[institutobernabeu.com] The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old.[ncbi.nlm.nih.gov] Acetoacetate and 3-hydroxybutyrate were absent.[ncbi.nlm.nih.gov]

Similar symptoms