Disease #00198 (? (unclassified / mixed))

Official abbreviation ?
Name unclassified / mixed
OMIM ID -
Inheritance -
Individuals reported having this disease 36957
Phenotype entries for this disease 24104
Associated with 4 genes C15orf40, STAT1, TULP3, ZAP70
Associated tissues -
Disease features -
Remarks -


Individuals

36957 entries on 370 pages. Showing entries 1 - 100.
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00000094 - PubMed: Bell 2011 - - - - - - - - - ? - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00001618 24744435-FamPatIV PubMed: Balboa-Beltran 2014 4-generation family, 7 affecteds (6F, M) F no Spain - - 0 - - ? Milroy-like disease, see paper; ... VEGFC VEGFC 1 1 Francisco Barros
00002675 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 27 Johan den Dunnen
00002676 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 115 Johan den Dunnen
00002677 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 41 Johan den Dunnen
00002678 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 312 Johan den Dunnen
00002679 - PubMed: Rozen 2012 - M - Viet Nam - - 0 - - ? - - - 1 107 Johan den Dunnen
00002680 - PubMed: Rozen 2012 - M - Viet Nam - - 0 - - ? - - - 1 1 Johan den Dunnen
00002681 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 121 Johan den Dunnen
00002682 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 3 Johan den Dunnen
00002683 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 105 Johan den Dunnen
00002684 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 2 Johan den Dunnen
00002685 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 2 Johan den Dunnen
00002686 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 2 Johan den Dunnen
00002687 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 1 Johan den Dunnen
00002688 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 16 Johan den Dunnen
00002690 - PubMed: Rozen 2012 - M - Poland white - - - - ? - - - 1 1 Johan den Dunnen
00002691 - PubMed: Rozen 2012 - M - Poland white - - - - ? - - - 1 1 Johan den Dunnen
00002692 - PubMed: Rozen 2012 - M - United States white - - - - ? - - - 1 1 Johan den Dunnen
00002693 - PubMed: Rozen 2012 - M - United States Hispanic - - - - ? - - - 1 1 Johan den Dunnen
00002694 - PubMed: Rozen 2012 - M - United States white - - - - ? - - - 1 1 Johan den Dunnen
00002695 - PubMed: Rozen 2012 - M - United States white - - - - ? - - - 1 1 Johan den Dunnen
00002696 - PubMed: Rozen 2012 - M - United States white - - - - ? - - - 1 1 Johan den Dunnen
00002697 - PubMed: Rozen 2012 - M - United States white - - - - ? - - - 1 1 Johan den Dunnen
00002698 - PubMed: Rozen 2012 - M - United States Hispanic - - - - ? - - - 1 1 Johan den Dunnen
00002699 - PubMed: Rozen 2012 - M - Poland white - - - - ? - - - 1 1 Johan den Dunnen
00002700 - PubMed: Rozen 2012 - M - Poland white - - - - ? - - - 2 1 Johan den Dunnen
00002834 - - - - - Spain - - - - - ? stiff-person-like syndrome BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002846 - - - - - Spain - - 0 - - ? early onset, cerebellar and pyramidal signs BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002903 - PubMed: Rohkamm et al., J. Neurol. Sci. 2007 18 affected - ? ? (unknown) - - - - - ? - - - 0 18 María-Jesús Sobrido
00002904 - PubMed: Rohkamm et al., J. Neurol. Sci. 2007 13 affected - ? ? (unknown) - - - - - ? - - - 0 13 María-Jesús Sobrido
00002943 - PubMed: Guillen-Navarro 2013 4-generation family, twin brother Fam3PatIII1 M no Spain - - - - - ? - BSCL2 - 0 1 Johan den Dunnen
00002959 - PubMed: Guillen-Navarro 2013 - M no Spain - - - - - ? - - - 0 1 Johan den Dunnen
00002960 - PubMed: Guillen-Navarro 2013 - M no Spain - - - - - ? - - - 0 1 Johan den Dunnen
00002993 - - - - - - - - - - - ? progressive hearing loss EYA4 EYA4 2 1 Marcel Nelen
00002994 - - - - - - - - - - - ? progressive hearing loss with comorbidity COL11A1 COL11A1 1 1 Marcel Nelen
00002995 - - - - - - - - - - - ? Usher type 2 USH2A USH2A 2 1 Marcel Nelen
00002996 - - - - - - - - - - - ? Retinitis pigmentosa (RP) MYO15A MYO15A 2 1 Marcel Nelen
00002997 - - - - - - - - - - - ? slowly progressive hearing loss MYO6 MYO6 1 1 Marcel Nelen
00002998 - - - - - - - - - - - ? low frequency hearing loss WFS1 WFS1 1 1 Marcel Nelen
00002999 - - - - - - - - - - - ?, MD congenital discant severe hearing loss USH2A USH2A 2 1 Marcel Nelen
00003000 - - - - - - - - - - - ?, MD bowlshaped hearing loss CDH23 CDH23, MYO6 3 1 Marcel Nelen
00003001 - - - - - - - - - - - ? progressive hearing loss MYH9 MYH9 1 1 Marcel Nelen
00003002 - - - - - - - - - - - ? congenital, severe hearing loss MYO15A MYO15A 3 1 Marcel Nelen
00003003 - - - - - - - - - - - ? sensorineuralprogressive hearing loss with flat audiogram SMPX SMPX 1 1 Marcel Nelen
00003004 - - - - - - - - - - - ? progressive midfreq bilateral hearing loss EYA1 EYA1 1 1 Marcel Nelen
00003005 - - - - - - - - - - - ? progressive, postlingual hearing loss MYO7A MYO7A 1 1 Marcel Nelen
00003006 - - - - - - - - - - - ? bowlshaped hearing loss COL11A1 COL11A1 1 1 Marcel Nelen
00003007 - - - - - - - - - - - ? high frequency hearing loss EYA1 EYA1 1 1 Marcel Nelen
00003008 - - - - - - - - - - - ? progressive hearing loss GPR98 GPR98 2 1 Marcel Nelen
00003013 - - - - - - - - - - - ? Ataxia & Epilepsy GOSR2 GOSR2 1 1 Marcel Nelen
00003019 - - - - - - - - - - - ? PMR, epilepsy, myopathy, dystonia Leigh syndrome MTFMT MTFMT 2 1 Marcel Nelen
00003020 - - - - - - - - - - - ? PMR, autism, ataxia RARS2 RARS2 2 1 Marcel Nelen
00003021 - - - - - - - - - - - ? Myopathy, psychiatric problems MFN2 MFN2 1 1 Marcel Nelen
00003022 - - - - - - - - - - - ? exercise intolerance TK2 TK2 1 1 Marcel Nelen
00003023 - - - - - - - - - - - ? PMR, Leigh syndrome NDUFA1 NDUFA1 1 1 Marcel Nelen
00003024 - - - - - - - - - - - ? Myopathy NDUFA1 NDUFA1 1 1 Marcel Nelen
00003025 - - - - - - - - - - - ? PMR, myopathy, Leigh syndrome TUFM TUFM 2 1 Marcel Nelen
00003026 - - - - - - - - - - - ? CRC39 MUTYH MUTYH 2 1 Marcel Nelen
00003031 - - - F no Russian Federation russian - 0 - - ? - FBN1 FBN1 1 1 Yulia Rogozhina
00003071 - - creative dance performance - - Israel - - 0 - - ? - AVPR1A AVPR1A 25 826 Johan den Dunnen
00003245 - PubMed: Luddi 2009 father of II1/2 M - Italy - - 0 - - ? - - GYG2P1, TTTY15, USP9Y 1 3 Johan den Dunnen
00003246 - PubMed: Luddi 2009 son of I1, brother of II2 M no Italy - - 0 - - ? normal sperm count (60M/ml); mild asthenozoospermia; FISH normal disomy counts DDX3Y GYG2P1, TTTY15, USP9Y 1 1 Johan den Dunnen
00004126 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - 0 - - ? - TGFB2 TGFB2 1 1 Georg Rosenberger
00004127 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - 0 - - ? - TGFB2 TGFB2 1 1 Georg Rosenberger
00004166 - - - ? ? ? (unknown) - - - - - ? - PRNP PRNP 2 1 Johan den Dunnen
00004167 - - - ? ? ? (unknown) - - - - - ? - PRNP PRNP 2 1 Johan den Dunnen
00004298 - PubMed: Beck 2010 - - - - - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004301 - - - - - - - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004302 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004303 - PubMed: Poulter 1992 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004304 - PubMed: Kaski 2011 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004305 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004489 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004499 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004500 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00011670 - - - - - - - - 0 - - ? - PXDN PXDN 1 1 Anne Slavotinek
00011677 24827421-P1 PubMed: Diodato 2014 - M ? Italy - - 0 - - ? psycomotor regression, microcephalia VARS2 VARS2 1 1 Daniele Ghezzi
00011679 24827421-P2/P3 PubMed: Diodato 2014 2-generation family, 2 affecteds M no Italy - - 0 - - ? Mitochondrial disorder TARS2 TARS2 2 1 Daniele Ghezzi
00013689 - - - F - Germany - - - no (pedigree) - ? additional phenotype data available; colorectal phenotype normal no polyps; no colon cancer APC APC, CRYAA 2 1 Stefan Aretz
00016080 - Huntsman Cancer Institute - HGCR, University of Utah, 2000 Circle of Hope Drive, Rm 1132, Salt lake City, Utah 84112 Gardner fibroma - - Germany - - - yes (pedigree) - ? additional phenotype data available APC APC 1 1 Stefan Aretz
00016128 - PubMed: Soler-Alfonso 2014 3-generation family, affected mother II-3 F ? United States white >37y 0 - - ? Developmental delay, learning disability, bipolar disorder, anxiety disorder, epilepsy CHRNA7 CHRNA7 1 4 Christian Schaaf
00016209 - PubMed: Gordon 2013 2-generation family, father and daugther (23315542-Pat7) M no - - - 0 - - ? normal ears, large cheeks, possible hypoplasia angle mandible GNAI3 GNAI3 1 1 Johan den Dunnen
00016300 - PubMed: Soler-Alfonso 2014 3-generation family, affected grandfather I.1 M - United States white - 0 - - ? alcoholism, drug addiction, abusive behaviors to family members; multiple family members with alcoholism CHRNA7 CHRNA7 1 1 Christian Schaaf
00016302 - - - - - Spain - - 0 - - ? - - BSCL2 1 1 Sergio Piñeiro
00016312 - - - F no - - - 0 - - ? - PXDN PXDN 2 1 Anne Slavotinek
00016315 - - - M - Albania - - 0 - - ? atypical metaphyseal anadysplasia, different clinical features and autosomal recessive mode of inheritance MMP13 MMP13 1 2 Dong Li
00016324 - - Diagnosis: Febrile seizures F ? Italy - - 0 - - ? familial febrile seizures GABRG2, RELN GABRG2, RELN 2 1 Lab Zuffardi
00016325 - - Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS) M no Italy - - 0 - - ? benign childhood epilepsy with centro-temporal spikes (BCECTS) GRIN2A, RELN GRIN2A, RELN 2 1 Lab Zuffardi
00016326 - - Diagnosis: Febrile seizures F no Italy - - 0 - - ? familial febrile seizures SCN2A SCN2A 1 1 Lab Zuffardi
00016413 - PubMed: Makrythanasis 2014 4-generation family, 2 affected bothers, unaffected heterozygous carrier parents (cousins) and sister M yes Egypt - - 0 - - ? the proband and his brother are affected from a syndrome that comprises: tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly FGFR3 FGFR3 1 2 Periklis Makrythanasis
00016424 - Nishiyama 2009 1 affected F no Japan - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 1 Sergio Piñeiro
00016427 - Rahman 2013 2 affected ? yes Pakistan - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 2 Sergio Piñeiro
00016428 - Huang 2013 1 affected, 2 unaffected carrier parents ? no China - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 3 Sergio Piñeiro
00016429 - Jeninga 2013 1 affected; 4 unaffected carriers ? yes Turkey - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 5 Sergio Piñeiro
00016586 - PubMed: Xia 2014 2-generation family, 1 affected F no (United States) European - 0 - - ? 18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea AHDC1, CALY, CCDC66, PTPRB, TBCK AHDC1, CALY, CCDC66, PTPRB, TBCK 5 1 Marianne Vos (LOVD-team)
00016587 - PubMed: Xia 2014 2-generation family, 1 affected F ? (United States) South Asian - 0 - - ? 4y-two words; 19m-sitting; 24m-walking; hypotonia, failure to thrive, protuberant ears, upslanting palpebral fissures, flat nasal bridge, obstructive sleep apnea AHDC1 AHDC1 1 1 Marianne Vos (LOVD-team)
00016588 - PubMed: Xia 2014 2-generation family, 1 affected M ? (United States) European - 0 - - ? mild intellectual disability; 1y-first words; persistent speech therapy; 9m-sitting; 18m-walking; hypotonia, failure to thrive, protuberant low-set ears, small earlobes, hypertelorism, downslanting palpebral fissures, mild ptosis, micrognathia, laryngomalacia, obstructive sleep apnea AHDC1 AHDC1 1 1 Marianne Vos (LOVD-team)
00016589 - PubMed: Xia 2014 2-generation family, 1 affected M ? (United States) European - 0 - - ? intellectual disability, (moderate to severe), no words, noncommunicating autism; 15m-sitting; no independent ambulation, hypotonia, failure to thrive, upturned earlobes, hypertelorism, esotropia, flat nasal bridge, suspected tracheomalacia in infancy, history of snoring; no macrodontia, no skeletal defects, nor other features of KGB syndrome AHDC1, ANKRD11 AHDC1, ANKRD11 2 1 Marianne Vos (LOVD-team)
00016696 - PubMed: Coste 2013 Mother of 23487782-Ind2 F ? ? (unknown) Unknown - 0 - operated for hypertrophic, constricted neck muscles; Physical therapy ? Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia +7 oculus uterque, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, abstent anterior cruciate ligaments knee, Camptodactyly, Clinodactyly Digits III–V, Dimples over large joints, Exertional dyspnea, Constriction of urethra, FEV1/FVC 60%/53%, Increased muscle tone, Tendon reflexes Weak and absent in knees and ankles, Normal intelligence, Musculoskeletal pain major problem, Altered pain sensation Possibly as child PIEZO1, PIEZO2 PIEZO2 1 1 Marianne Vos (LOVD-team)
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