Disease #05578 (MKS (Meckel syndrome (MKS, Meckel-Gruber syndrome)))

Official abbreviation MKS
Name Meckel syndrome (MKS, Meckel-Gruber syndrome)
OMIM ID -
Inheritance -
Individuals reported having this disease 178
Phenotype entries for this disease 172
Associated with 3 genes CC2D2A, RPGRIP1L, TMEM67
Associated tissues -
Disease features -
Remarks -
Date created 2019-02-22 22:26:27 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

178 entries on 2 pages. Showing entries 1 - 100.
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00033194 Fam5Pat407 PubMed: Baala 2007 - - - France - - - - - MKS see paper; ... CEP290 CEP290 2 1 Johan den Dunnen
00033208 Fam4Pat304 PubMed: Baala 2007 family, 2 affected - - France;Tunisia - - - - - MKS see paper; ... CEP290 CEP290 2 2 Johan den Dunnen
00033210 23169490-FamMKS_F11 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CEP290 CEP290 1 2 Johan den Dunnen
00033214 Fam10Pat03/485/Pat05/158 PubMed: Baala 2007 family, 2 affected sibs - - France - - - - - MKS see paper; ... CEP290 CEP290 1 1 Johan den Dunnen
00033238 Fam7Pat387 PubMed: Baala 2007 - - - France - - - - - MKS see paper; ... CEP290 CEP290 2 1 Johan den Dunnen
00033242 Fam8Pat712 PubMed: Baala 2007 - - - Palestine - - - - - MKS see paper; ... CEP290 CEP290 2 1 Johan den Dunnen
00033245 Fam2Pat312 PubMed: Baala 2007 - - - Tunisia - - - - - MKS see paper; ... CEP290 CEP290 1 1 Johan den Dunnen
00033254 Fam6Pat650 PubMed: Baala 2007 - - - - - - - - - MKS see paper; ... CEP290 CEP290 2 1 Johan den Dunnen
00033296 Fam9Pat380/381 PubMed: Baala 2007 family, 2 affected - - France - - - - - MKS see paper; ... CEP290 CEP290 2 2 Johan den Dunnen
00033307 UM9 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CEP290 CEP290 1 5 Johan den Dunnen
00033315 23169490-FamMKS_F13 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CEP290 CEP290 1 1 Johan den Dunnen
00103649 23169490-FamMKS_F15 PubMed: Shaheen 2013 - - yes Saudi Arabia - - - - - MKS see paper; ... C5orf42 C5orf42, SUPT20H 2 1 Anas M Alazami
00117503 23169490-MKS_F1 PubMed: Shaheen 2013 - - yes Saudi Arabia - - - - - MKS see paper; ... TMEM237 NCOA6, TMEM237 2 1 Anas M Alazami
00225713 23169490-FamMKS_F16 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS - - ETV1, EXOC4, TXNDC15 3 1 Johan den Dunnen
00225714 23169490-FamMKS_F3 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225715 23169490-FamMKS_F5 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225716 23169490-FamMKS_F8 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225717 23169490-FamMKS_F10 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225718 23169490-FamMKS_F12 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225719 23169490-FamMKS_F14 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see pape; ... CC2D2A CC2D2A 1 1 Johan den Dunnen
00225720 23169490-FamMKS_F4 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... TCTN2 TCTN2 1 1 Johan den Dunnen
00225721 23169490-FamMKS_F9 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... TCTN2 TCTN2 1 1 Johan den Dunnen
00225722 23169490-FamMKS_F6 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... TMEM67 TMEM67 1 1 Johan den Dunnen
00225723 23169490-FamMKS_F7 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... MKS1 MKS1 1 1 Johan den Dunnen
00225724 23169490-FamMKS_F7 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... MKS1 MKS1 1 1 Johan den Dunnen
00225728 19777577-FamMKS1PatMKS-84D PubMed: Mougou-Zerelli 2009 family, 4 fetuses - yes Algeria - <0d - - - MKS fetus 21w; cystic kidneys characteristic of Meckel syndrome; hepatic fibrosis, bile duct proliferation liver; occipital meningocele, Dandy-Walker; no polydactily; left heart hypoplasia, femoral bowing CC2D2A CC2D2A 1 4 Johan den Dunnen
00225729 19777577-FamMKS1PatMKS-84A PubMed: Mougou-Zerelli 2009 - - yes Algeria - <0d - - - MKS fetus 33w; cystic kidneys characteristic of Meckel syndrome; ; no liver anomalies; Dandy-Walker; no polydactily CC2D2A CC2D2A 1 1 Johan den Dunnen
00225730 19777577-FamMKS1PatMKS-84B PubMed: Mougou-Zerelli 2009 - - yes Algeria - <0d - - - MKS fetus 21w; cystic kidneys characteristic of Meckel syndrome; no liver anomalies; coloboma; occipital defect; no polydactily CC2D2A CC2D2A 1 1 Johan den Dunnen
00225731 19777577-FamMKS1PatMKS-84C PubMed: Mougou-Zerelli 2009 - - yes Algeria - <0d - - - MKS fetus 21w; cystic kidneys characteristic of Meckel syndrome; retinal cyst; occipital meningocele; arhinencephaly; polydactyly upper limbs; epididymal cysts CC2D2A CC2D2A 1 1 Johan den Dunnen
00225732 19777577-FamMKS2PatMKS-54 PubMed: Mougou-Zerelli 2009 family, 1 fetus - yes Mauritania - <0d - - - MKS fetus 17.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; optic nerve dysplasia; occipital encephalocele; polydactily upper/lower limbs; intrauterine growth retardation, cleft palate CC2D2A CC2D2A 1 1 Johan den Dunnen
00225733 19777577-FamMKS3PatMKS-160 PubMed: Mougou-Zerelli 2009 family, 1 fetus - yes France - <0d - - - MKS fetus 23w; cystic kidneys characteristic of Meckel syndrome; occipital encephalocele; polydactily upper limbs CC2D2A CC2D2A 1 1 Johan den Dunnen
00225734 19777577-FamMKS4PatMKS-410 PubMed: Mougou-Zerelli 2009 family, 3 fetuses - yes Turkey - <0d - - - MKS fetus 23w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; no ocular anomalies; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate, bifide tongue, epididymal/pancreatic cysts CC2D2A CC2D2A 1 3 Johan den Dunnen
00225735 19777577-FamMKS4PatMKS-413 PubMed: Mougou-Zerelli 2009 - - yes Turkey - <0d - - - MKS fetus 11.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital encephalocele, microcephaly; polydactily upper/lower limbs CC2D2A CC2D2A 1 1 Johan den Dunnen
00225736 19777577-FamMKS4PatMKS-414 PubMed: Mougou-Zerelli 2009 - - yes Turkey - <0d - - - MKS fetus 12.5w; cystic kidneys characteristic of Meckel syndrome; coloboma; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate CC2D2A CC2D2A 1 1 Johan den Dunnen
00225737 19777577-FamMKS5PatMKS-977 PubMed: Mougou-Zerelli 2009 family, 1 fetus - yes Turkey - <0d - - - MKS fetus 34w; cystic kidneys; occipital encephalocele; no polydactily CC2D2A CC2D2A 1 1 Johan den Dunnen
00225738 19777577-FamMKS6PatMKS-010 PubMed: Mougou-Zerelli 2009 family, 2 fetuses - no Guadeloupe - <0d - - - MKS fetus 19w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele, cerebellar vemis agenesis; polydactily upper limbs; bell chest CC2D2A CC2D2A 1 2 Johan den Dunnen
00225739 19777577-FamMKS6PatMKS-011 PubMed: Mougou-Zerelli 2009 - - no Guadeloupe - <0d - - - MKS fetus 14w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs CC2D2A CC2D2A 1 1 Johan den Dunnen
00225740 19777577-FamMKS7PatMKS-142 PubMed: Mougou-Zerelli 2009 family, 2 fetuses - no France - <0d - - - MKS fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis, cerebellar vemis agenesis; polydactily upper/lower limbs; bicornuate uterus CC2D2A CC2D2A 2 2 Johan den Dunnen
00225741 19777577-FamMKS7PatMKS-143 PubMed: Mougou-Zerelli 2009 - - no France - <0d - - - MKS fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis; polydactily upper/lower limbs; cleft palate, micropenis, femoral bowing CC2D2A CC2D2A 2 1 Johan den Dunnen
00225742 19777577-FamMKS8PatMKS-982 PubMed: Mougou-Zerelli 2009 family, 1 fetus - no France - <0d - - - MKS fetus 13w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; vVertex M, anencephaly; polydactily upper/lower limbs; cleft palate CC2D2A CC2D2A 2 1 Johan den Dunnen
00225743 19777577-FamMKS9PatMKS-362 PubMed: Mougou-Zerelli 2009 family, 4 fetuses - no France - <0d - - - MKS fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs CC2D2A CC2D2A 2 4 Johan den Dunnen
00225744 19777577-FamMKS9PatMKS-363 PubMed: Mougou-Zerelli 2009 - - no France - <0d - - - MKS fetus 13w; occipital meningocele CC2D2A CC2D2A 2 1 Johan den Dunnen
00225745 19777577-FamMKS9PatMKS-364 PubMed: Mougou-Zerelli 2009 - - no France - <0d - - - MKS fetus 13w; polydactily upper limbs CC2D2A CC2D2A 2 1 Johan den Dunnen
00225746 19777577-FamMKS9PatMKS-365 PubMed: Mougou-Zerelli 2009 - - no France - <0d - - - MKS fetus 16w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily CC2D2A CC2D2A 2 1 Johan den Dunnen
00225747 19777577-FamMKS10PatMKS-987 PubMed: Mougou-Zerelli 2009 family, 1 fetus - no - - <0d - - - MKS fetus 15w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver, hepatic fibrosis; occipital encephalocele, corpus callosum agenesis, arhinencephaly, cerebellar vemis agenesis, hypothalamic hamrtoma; polydactily upper/lower limbs; epididymal cysts CC2D2A CC2D2A 1 1 Johan den Dunnen
00225748 19777577-FamMKS11PatMKS-692 PubMed: Mougou-Zerelli 2009 family, 1 fetus - no United States - <0d - - - MKS fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; Dandy-Walker; polydactily upper/lower limbs; hypospadias, ulnar bowing, accessory spleen, gonadal dysgenesis CC2D2A CC2D2A 1 1 Johan den Dunnen
00263972 - - - M no - European - - - - MKS enlarged multicystic dysplastic kidneys, occipital encephalocoele TMEM231 TMEM231 2 1 Christopher Watson
00377695 M456 PubMed: Hopp 2011 2-generation family, 1 affected fetus - - United States - - - - - MKS - B9D1 B9D1, CEP290 3 1 Johan den Dunnen
00385445 patient PubMed: Takenouchi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - MKS see paper; ..., hydrocephalus, occipital encephalocele; born 37w1d, weight 3,954 grams (+4.2SD), length 52.0 cm (+2.5SD), OFC 46.0 cm (+11SD); soon after birth placement ventricularperitoneal shunt for severe hydrocephalus; neonatal period exhibited frequent apneic spells, both obstructive and central components; frequency apneic spells (treated with bidirectional positive airway pressure) increased during infancy; ECG no epileptogenic activities; 5y-poor growth, weight 7.6 kg (−4.0SD), height 85 cm (−4.9SD), severe intellectual disability, no intelligible words, distinctive facies, widely spaced eyes, esotropia, tall ears, depressed nasal bridge, post-axial polydactyly both hands, T1-weighted MRI brain occipital encephalocele, severe hydrocephalus, abdominal ultrasound showed multicystic lesions kidney, ultrasound no intrahepatic fibrosis, no hepatic dysfunction on blood tests CC2D2A BBS2, CC2D2A, DNAH11 4 1 Johan den Dunnen
00387424 14 PubMed: Devi 2020 Family 14 ? - India - - - - - MKS - CEP290 CEP290 1 1 LOVD
00418727 1 PubMed: Auber 2007 - F - Germany - - - - - MKS gestation weeks: 21+0; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: +/+; epididymal cystic dysplasia: F; ocular coloboma (left/right): +/+; dysmorphic facies with prominent/sloping forehead: +/-; other: MKS1 MKS1 1 1 LOVD
00418728 2 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 31+6; campomelic variant: -; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/-; epididymal cystic dysplasia: +; ocular coloboma (left/right): +/+; dysmorphic facies with prominent/sloping forehead: -/+; other: polysplenia, hypoplastic left heart MKS1 MKS1 1 1 LOVD
00418729 3 PubMed: Auber 2007 - F - Germany - - - - - MKS gestation weeks: 18+0; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/-; epididymal cystic dysplasia: F; ocular coloboma (left/right): +/-; dysmorphic facies with prominent/sloping forehead: -/+; other: - MKS1 MKS1 1 1 LOVD
00418730 4 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 19th; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: -/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/+; epididymal cystic dysplasia: +; ocular coloboma (left/right): -/-; dysmorphic facies with prominent/sloping forehead: +/-; other: concordant twin, partial agenesis of corpus callosum MKS1 MKS1 1 1 LOVD
00418731 5 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 19th; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: +*/+; epididymal cystic dysplasia: +; ocular coloboma (left/right): +/+; dysmorphic facies with prominent/sloping forehead: +/-; other: *Pierre Robin sequence, holoprosencephaly MKS1 MKS1 1 1 LOVD
00418732 6 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 18th; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/-, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/+; epididymal cystic dysplasia: +; ocular coloboma (left/right): +/+; dysmorphic facies with prominent/sloping forehead: -/+; other: ambiguous genitalia MKS1 MKS1 1 1 LOVD
00418733 7 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 22nd; campomelic variant: +; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: -/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: +/+; epididymal cystic dysplasia: +; ocular coloboma (left/right): not determined; dysmorphic facies with prominent/sloping forehead: -/+; other: - MKS1 MKS1 1 1 LOVD
00418734 8 PubMed: Auber 2007 - M - Germany - - - - - MKS gestation weeks: 24th; campomelic variant: -; occipital cerebral encephalocele/lower occipital bone keyhole defect with occult cerebellar encephalocele: +/+; renal cystic dysplasia: +; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: +/+; epididymal cystic dysplasia: +; ocular coloboma (left/right): not determined; dysmorphic facies with prominent/sloping forehead: -/+; other: horseshoe kidney MKS1 MKS1 1 1 LOVD
00418735 Fam850 PubMed: Frank 2007 family, parents 1st cousins, 4 affected siblings - yes Turkey - - - - - MKS central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly; additional features: Dandy-Walker malformation, hydrocephalus, cleft lip MKS1 MKS1 1 4 LOVD
00418736 Fam937 PubMed: Frank 2007 family 937, parents 1st cousins - yes Turkey - - - - - MKS central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly MKS1 MKS1 1 1 LOVD
00418737 Fam951 PubMed: Frank 2007 family 951, parents 1st cousins - yes Kuwait - - - - - MKS central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly MKS1 MKS1 1 1 LOVD
00418738 Fam943 PubMed: Frank 2007 family 943 - no Germany - - - - - MKS central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly MKS1 MKS1 2 1 LOVD
00443481 Fam4Pat303 PubMed: Baala 2007 relative - - France;Tunisia - - - - - MKS - CEP290 CEP290 2 1 Johan den Dunnen
00443482 Fam3Pat2607/3501 PubMed: Baala 2007 family, 6 affected - - Tunisia - - - - - MKS see paper; ... CEP290 CEP290 1 2 Johan den Dunnen
00443483 Fam1Pat4/5 PubMed: Baala 2007 family, 2 affected - - Morocco - - - - - MKS seee paper; ... CEP290 CEP290 1 2 Johan den Dunnen
00443484 UM7 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CEP290 CEP290 1 1 Johan den Dunnen
00443485 UM8 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CEP290 CEP290 2 1 Johan den Dunnen
00443486 UM6 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CEP290 CEP290 2 1 Johan den Dunnen
00443487 FIM221 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CEP290 CEP290 2 1 Johan den Dunnen
00443488 UM10 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CC2D2A CC2D2A 2 1 Johan den Dunnen
00443489 UM11 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CC2D2A CC2D2A 2 1 Johan den Dunnen
00443490 UM12 PubMed: Tallila 2008 - - - - Europe - - - - MKS - CC2D2A CC2D2A 2 1 Johan den Dunnen
00443492 UM1 PubMed: Tallila 2008 - - - - Europe - - - - MKS - TMEM67 TMEM67 2 1 Johan den Dunnen
00443494 UM2 PubMed: Tallila 2008 - - - - Europe - - - - MKS - TMEM67 TMEM67 2 1 Johan den Dunnen
00443495 UM4 PubMed: Tallila 2008 - - - - Europe - - - - MKS - TMEM67 TMEM67 2 1 Johan den Dunnen
00443496 UM5 PubMed: Tallila 2008 - - - - Europe - - - - MKS - TMEM67 TMEM67 2 1 Johan den Dunnen
00443497 FIM48 PubMed: Tallila 2008 - - - - Europe - - - - MKS - MKS1 MKS1 2 1 Johan den Dunnen
00443500 Fetus1 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; cleft lip/palate; no polydactyly hands; polydactyly feet; club feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443501 Fetus2 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet; club feet; gonadal undifferentiation CC2D2A CC2D2A 1 1 Johan den Dunnen
00443502 Fetus3 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; hypoplastic lungs; no cleft lip/palate; polydactyly hands; polydactyly feet; club feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443503 Fetus4 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; fibrotic/cystic liver changes; no cleft lip/palate; polydactyly hands; polydactyly feet; club feet; seven toes with double big toes in both feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443504 Fetus5 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; anencephaly; large cystic kidneys; hypoplastic lungs; polydactyly hands; polydactyly feet; club feet; one large horse-shoe kidney, only two lobes in both lungs CC2D2A CC2D2A 1 1 Johan den Dunnen
00443505 Fetus6 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; no polydactyly hands; polydactyly feet; club feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443506 Fetus7 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; fibrotic/cystic liver changes CC2D2A CC2D2A 1 1 Johan den Dunnen
00443507 Fetus8 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; anencephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443508 Fetus9 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; hydrocephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet CC2D2A CC2D2A 1 1 Johan den Dunnen
00443509 Fetus10 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; large cystic kidneys; hypoplastic lungs; polydactyly hands; polydactyly feet; hypoplastic penis CC2D2A CC2D2A 1 1 Johan den Dunnen
00443510 Fetus11 PubMed: Tallila 2008 - - - Finland - <0d - - - MKS occipital encephalocele; 2nd hole in occipital bone; large cystic kidneys; cleft lip/palate; polydactyly hands; polydactyly feet; club feet; aplastic gall bladder and bladder, ureters connect to vagina CC2D2A CC2D2A 1 1 Johan den Dunnen
00443511 F1MKS03/107 PubMed: Delous 2007 family, 2 affected fetuses - yes Morocco - <00y00m00d - - - MKS see paper; ..., 15gw-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia RPGRIP1L RPGRIP1L 1 2 Johan den Dunnen
00443512 F1MKS04/428 PubMed: Delous 2007 2nd fetus - yes Morocco - <00y00m00d - - - MKS see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs, lower limbs), cleft lip, cleft palate, microphthalmia, long bones bowing RPGRIP1L RPGRIP1L 1 1 Johan den Dunnen
00443513 F2MKS05/206 PubMed: Delous 2007 fetus - no France - - - - - MKS see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia, long bones bowing RPGRIP1L RPGRIP1L 2 1 Johan den Dunnen
00443521 Fam1 PubMed: Frank 2008 8-generation family, 2 affected male fetuses, unaffected heterozygous parents/relatives M yes Albania;Kosovo - <00y00m00d - - - MKS see paper; ... CEP290 CEP290 1 1 Johan den Dunnen
00443522 FamF972 PubMed: Frank 2008 2-generation family, 2 affected fertuses (F, M), unaffected heterozygous parents F;M - Kosovo - - - - - MKS see paper; ... CEP290 CEP290 1 2 Johan den Dunnen
00443523 Fam125PatIV1 PubMed: Smith 2006 4-generation family, 1 affected fetus, unaffected heterozygous parents/relatives - yes Oman - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; Dandy-Walker cyst; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); upper limb post-axial polydactyly (left hand) TMEM67 TMEM67 1 1 Johan den Dunnen
00443524 Fam67FPatIV1/2 PubMed: Smith 2006 4-generation family, 2 affected fetuses, unaffected heterozygous parents/relatives - yes Pakistan - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate TMEM67 TMEM67 1 2 Johan den Dunnen
00443525 Fam73PatIV1 PubMed: Smith 2006 4-generation family, 1 affected fetus - yes Pakistan - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation) TMEM67 TMEM67 1 1 Johan den Dunnen
00443526 Fam40TPatIV2 PubMed: Smith 2006 4-generation family, 1 affected fetus - yes Pakistan - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate; epididymal cysts TMEM67 TMEM67 1 1 Johan den Dunnen
00443527 Fam29APatIV1 PubMed: Smith 2006 4-generation family, 2 affected fetuses, unaffected heterozygous parents/relatives - yes Pakistan - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation) TMEM67 TMEM67 1 2 Johan den Dunnen
00443528 Fam33APatIV5 PubMed: Smith 2006 2nd fetus - yes Pakistan - <00y00m00d - - - MKS see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); upper limb post-axial polydactyly (left/right hand) TMEM67 TMEM67 1 1 Johan den Dunnen
00443529 Fam1Pat342 PubMed: Khaddour 2007 affected fetus - - Morocco - <0d - - - MKS see paper; ... TMEM67 TMEM67 2 1 Johan den Dunnen
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