Phenotypes for disease #05578 (MKS (Meckel syndrome (MKS, Meckel-Gruber syndrome)))

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0000170820 Meckel-Gruber syndrome JBTS-14 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00117503
0000170821 Meckel-Gruber syndrome JBTS-17 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00103649
0000170822 Meckel-Gruber syndrome - - Familial, autosomal recessive - - - - Johan den Dunnen 00225713
0000170823 Meckel-Gruber syndrome MKS-6 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225714
0000170824 Meckel-Gruber syndrome MKS-6 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225715
0000170825 Meckel-Gruber syndrome MKS-6 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225716
0000170826 Meckel-Gruber syndrome MKS-6 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225717
0000170827 Meckel-Gruber syndrome MKS-6 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225718
0000170828 Meckel-Gruber syndrome MKS-6 see pape; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225719
0000170829 Meckel-Gruber syndrome MKS-8 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225720
0000170830 Meckel-Gruber syndrome MKS-8 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225721
0000170831 Meckel-Gruber syndrome MKS-3 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225722
0000170832 Meckel-Gruber syndrome MKS-1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225723
0000170833 Meckel-Gruber syndrome MKS-4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033210
0000170834 Meckel-Gruber syndrome MKS-4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033315
0000170835 Meckel-Gruber syndrome MKS-1 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00225724
0000170839 Meckel-Gruber syndrome MKS-6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00225728
0000170840 Meckel-Gruber syndrome MKS-6 fetus 33w; cystic kidneys characteristic of Meckel syndrome; ; no liver anomalies; Dandy-Walker; no polydactily Familial, autosomal recessive <0d - - - Johan den Dunnen 00225729
0000170841 Meckel-Gruber syndrome MKS-6 fetus 21w; cystic kidneys characteristic of Meckel syndrome; no liver anomalies; coloboma; occipital defect; no polydactily Familial, autosomal recessive <0d - - - Johan den Dunnen 00225730
0000170842 Meckel-Gruber syndrome MKS-6 fetus 21w; cystic kidneys characteristic of Meckel syndrome; retinal cyst; occipital meningocele; arhinencephaly; polydactyly upper limbs; epididymal cysts Familial, autosomal recessive <0d - - - Johan den Dunnen 00225731
0000170843 Meckel-Gruber syndrome MKS-6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00225732
0000170844 Meckel-Gruber syndrome MKS-6 fetus 23w; cystic kidneys characteristic of Meckel syndrome; occipital encephalocele; polydactily upper limbs Familial, autosomal recessive <0d - - - Johan den Dunnen 00225733
0000170845 Meckel-Gruber syndrome MKS-6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00225734
0000170846 Meckel-Gruber syndrome MKS-6 fetus 11.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital encephalocele, microcephaly; polydactily upper/lower limbs Familial, autosomal recessive <0d - - - Johan den Dunnen 00225735
0000170847 Meckel-Gruber syndrome MKS-6 fetus 12.5w; cystic kidneys characteristic of Meckel syndrome; coloboma; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate Familial, autosomal recessive <0d - - - Johan den Dunnen 00225736
0000170848 Meckel-Gruber syndrome MKS-6 fetus 34w; cystic kidneys; occipital encephalocele; no polydactily Familial, autosomal recessive <0d - - - Johan den Dunnen 00225737
0000170849 Meckel-Gruber syndrome MKS-6 fetus 19w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele, cerebellar vemis agenesis; polydactily upper limbs; bell chest Familial, autosomal recessive <0d - - - Johan den Dunnen 00225738
0000170850 Meckel-Gruber syndrome MKS-6 fetus 14w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs Familial, autosomal recessive <0d - - - Johan den Dunnen 00225739
0000170851 Meckel-Gruber syndrome MKS-6 fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis, cerebellar vemis agenesis; polydactily upper/lower limbs; bicornuate uterus Familial, autosomal recessive <0d - - - Johan den Dunnen 00225740
0000170852 Meckel-Gruber syndrome MKS-6 fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis; polydactily upper/lower limbs; cleft palate, micropenis, femoral bowing Familial, autosomal recessive <0d - - - Johan den Dunnen 00225741
0000170853 Meckel-Gruber syndrome MKS-6 fetus 13w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; vVertex M, anencephaly; polydactily upper/lower limbs; cleft palate Familial, autosomal recessive <0d - - - Johan den Dunnen 00225742
0000170854 Meckel-Gruber syndrome MKS-6 fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs Familial, autosomal recessive <0d - - - Johan den Dunnen 00225743
0000170855 Meckel-Gruber syndrome MKS-6 fetus 13w; occipital meningocele Familial, autosomal recessive <0d - - - Johan den Dunnen 00225744
0000170856 Meckel-Gruber syndrome MKS-6 fetus 13w; polydactily upper limbs Familial, autosomal recessive <0d - - - Johan den Dunnen 00225745
0000170857 Meckel-Gruber syndrome MKS-6 fetus 16w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily Familial, autosomal recessive <0d - - - Johan den Dunnen 00225746
0000170858 Meckel-Gruber syndrome MKS-6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00225747
0000170859 Meckel-Gruber syndrome MKS-6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00225748
0000201830 - - enlarged multicystic dysplastic kidneys, occipital encephalocoele Familial, autosomal recessive - - - - Christopher Watson 00263972
0000279240 Meckel-Gruber syndrome MKS6 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 Familial, autosomal recessive 05y - <00y00m01d - Johan den Dunnen 00385445
0000280987 Meckel-Gruber syndrome - - Familial, autosomal recessive - - - - LOVD 00387424
0000310022 - Meckel-Gruber syndrome 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: Familial, autosomal recessive - - - - LOVD 00418727
0000310023 - Meckel-Gruber syndrome 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 Familial, autosomal recessive - - - - LOVD 00418728
0000310024 - Meckel-Gruber syndrome 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: - Familial, autosomal recessive - - - - LOVD 00418729
0000310025 - Meckel-Gruber syndrome 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 Familial, autosomal recessive - - - - LOVD 00418730
0000310026 - Meckel-Gruber syndrome 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 Familial, autosomal recessive - - - - LOVD 00418731
0000310027 - Meckel-Gruber syndrome 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 Familial, autosomal recessive - - - - LOVD 00418732
0000310028 - Meckel-Gruber syndrome 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: - Familial, autosomal recessive - - - - LOVD 00418733
0000310029 - Meckel-Gruber syndrome 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 Familial, autosomal recessive - - - - LOVD 00418734
0000310030 - Meckel-Gruber syndrome central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly; additional features: Dandy-Walker malformation, hydrocephalus, cleft lip Familial, autosomal recessive - - - - LOVD 00418735
0000310031 - Meckel-Gruber syndrome central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly Familial, autosomal recessive - - - - LOVD 00418736
0000310032 - Meckel-Gruber syndrome central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly Familial, autosomal recessive - - - - LOVD 00418737
0000310033 - Meckel-Gruber syndrome central nervous system malformation: encephalocele; cystic kidney dysplasia; ductal plate malformation; postaxial polydactyly Familial, autosomal recessive - - - - LOVD 00418738
0000332807 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033208
0000332808 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00443482
0000332809 Meckel syndrome MKS4 seee paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00443483
0000332810 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033245
0000332811 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033194
0000332812 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033254
0000332813 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033238
0000332814 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033242
0000332815 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033296
0000332816 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00033214
0000332817 Meckel syndrome MKS4 - Familial, autosomal recessive - - - - Johan den Dunnen 00443484
0000332818 Meckel syndrome MKS4 - Familial, autosomal recessive - - - - Johan den Dunnen 00443485
0000332819 Meckel syndrome MKS4 - Familial, autosomal recessive - - - - Johan den Dunnen 00033307
0000332820 Meckel syndrome MKS4 - Familial, autosomal recessive - - - - Johan den Dunnen 00443486
0000332821 Meckel syndrome MKS4 - Familial, autosomal recessive - - - - Johan den Dunnen 00443487
0000332822 Meckel syndrome MKS6 - Familial, autosomal recessive - - - - Johan den Dunnen 00443488
0000332823 Meckel syndrome MKS6 - Familial, autosomal recessive - - - - Johan den Dunnen 00443489
0000332824 Meckel syndrome MKS6 - Familial, autosomal recessive - - - - Johan den Dunnen 00443490
0000332826 Meckel syndrome MKS3 - Familial, autosomal recessive - - - - Johan den Dunnen 00443492
0000332827 Meckel syndrome MKS3 - Familial, autosomal recessive - - - - Johan den Dunnen 00443494
0000332828 Meckel syndrome MKS3 - Familial, autosomal recessive - - - - Johan den Dunnen 00443495
0000332829 Meckel syndrome MKS3 - Familial, autosomal recessive - - - - Johan den Dunnen 00443496
0000332831 Meckel syndrome MKS1 - Familial, autosomal recessive - - - - Johan den Dunnen 00443497
0000332834 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; cleft lip/palate; no polydactyly hands; polydactyly feet; club feet Familial, autosomal recessive <0d - - - Johan den Dunnen 00443500
0000332835 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet; club feet; gonadal undifferentiation Familial, autosomal recessive <0d - - - Johan den Dunnen 00443501
0000332836 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; hypoplastic lungs; no cleft lip/palate; polydactyly hands; polydactyly feet; club feet Familial, autosomal recessive <0d - - - Johan den Dunnen 00443502
0000332837 Meckel syndrome MKS6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00443503
0000332838 Meckel syndrome MKS6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00443504
0000332839 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; hypoplastic lungs; fibrotic/cystic liver changes; no polydactyly hands; polydactyly feet; club feet Familial, autosomal recessive <0d - - - Johan den Dunnen 00443505
0000332840 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; fibrotic/cystic liver changes Familial, autosomal recessive <0d - - - Johan den Dunnen 00443506
0000332841 Meckel syndrome MKS6 occipital encephalocele; anencephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet Familial, autosomal recessive <0d - - - Johan den Dunnen 00443507
0000332842 Meckel syndrome MKS6 occipital encephalocele; hydrocephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet Familial, autosomal recessive <0d - - - Johan den Dunnen 00443508
0000332843 Meckel syndrome MKS6 occipital encephalocele; large cystic kidneys; hypoplastic lungs; polydactyly hands; polydactyly feet; hypoplastic penis Familial, autosomal recessive <0d - - - Johan den Dunnen 00443509
0000332844 Meckel syndrome MKS6 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 Familial, autosomal recessive <0d - - - Johan den Dunnen 00443510
0000332845 Meckel syndrome MKS5 see paper; ..., 15gw-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia Familial, autosomal recessive <00y00m00d - - - Johan den Dunnen 00443511
0000332846 Meckel syndrome MKS5 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 Familial, autosomal recessive <00y00m00d - - - Johan den Dunnen 00443512
0000332847 Meckel syndrome MKS5 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 Familial, autosomal recessive <00y00m00d - - - Johan den Dunnen 00443513
0000332855 Meckel syndrome mks4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00443521
0000332856 Meckel syndrome MKS4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00443522
0000332857 Meckel syndrome MKS3 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) Familial, autosomal recessive - - - - Johan den Dunnen 00443523
0000332858 Meckel syndrome MKS3 see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate Familial, autosomal recessive - - - - Johan den Dunnen 00443524
0000332859 Meckel syndrome MKS3 see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation) Familial, autosomal recessive - - - - Johan den Dunnen 00443525
0000332860 Meckel syndrome MKS3 see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); midline cleft palate; epididymal cysts Familial, autosomal recessive - - - - Johan den Dunnen 00443526
0000332861 Meckel syndrome MKS3 see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation) Familial, autosomal recessive - - - - Johan den Dunnen 00443527
0000332862 Meckel syndrome MKS3 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) Familial, autosomal recessive - - - - Johan den Dunnen 00443528
0000332863 Meckel syndrome MKS3 see paper; ... Familial, autosomal recessive <0d - - - Johan den Dunnen 00443529
0000332864 Meckel syndrome MKS3 see paper; ... Familial, autosomal recessive <0d - - - Johan den Dunnen 00443530
0000332865 Meckel syndrome MKS3 see paper; ... Familial, autosomal recessive <0d - - - Johan den Dunnen 00443531
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