All individuals with variants in gene MKS1

166 entries on 2 pages. Showing entries 1 - 100.
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00000020 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000044 - PubMed: Bell 2011 Coriell sample - - - - - - - - GA1 - 1 1 Global Variome, with Curator vacancy
00000210 - PubMed: Abu-Safieh-2013 - - - (Saudi Arabia) - - - - - CORD - 1 1 Leen Abu Safieh
00019400 - - - - - - - - - - - JBTS1 - 2 1 Hester Y. Kroes
00019401 - - - - - India - - - - - JBTS1 - 1 1 Hester Y. Kroes
00019402 - - - - - Pakistan - - - - - JBTS1 - 1 1 Hester Y. Kroes
00019403 - - - - - Greece - - - - - JBTS1 - 2 1 Hester Y. Kroes
00019404 - - - - - Serbia - - - - - JBTS1 - 1 1 Hester Y. Kroes
00019405 - - - - - Slovenia - - - - - JBTS1 - 1 1 Hester Y. Kroes
00019406 - - mixed background (father Greek, mother Trinidad) - - Greece Greek;Trinidad - - - - JBTS1 - 2 1 Hester Y. Kroes
00019407 - - - - no Netherlands - - - - - JBTS1 - 1 1 Hester Y. Kroes
00019408 - - - - - Turkey - - - - - JBTS1 - 1 1 Hester Y. Kroes
00056053 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - - - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056381 IV-10 - - M yes Pakistan Pashton - - - - JBTS Joubert syndrome like phenotype 1 1 Irfan Ullah
00181104 - - - M yes - - - - - - MKS1 - 1 1 Isabel Filges
00225723 23169490-FamMKS_F7 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... 1 1 Johan den Dunnen
00225724 23169490-FamMKS_F7 PubMed: Shaheen 2013 - - - Saudi Arabia - - - - - MKS see paper; ... 1 1 Johan den Dunnen
00309223 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309224 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00331511 10DG0577 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Global developmental delay, Hydronephrosis, Obesity, Polydactyly, Cirrhosis, Allergy, AbnNo 1 1 LOVD
00331512 12DG2087 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Occipital encephalocele, Polycystic kidney dysplasia, Polydactyly, Microcephaly, Neonatal Yes 1 1 LOVD
00331513 16DG1064 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Occipital encephalocele, Hand polydactyly, Polycystic kidney dysplasia 1 1 LOVD
00332540 Pat25 PubMed: Comander 2017 - F - United States - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00333362 Pat2 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00358970 Case71161 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358979 Case71808 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00372288 UW010-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372289 UW031-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372290 UW090-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372291 UW091-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372292 UW092-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372293 UW092-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372294 UW093-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372295 UW150-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372296 UW153-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372378 UW318-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372555 - - - M - - - - - - - JBTS - 2 1 Sandro Banfi
00375434 RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00377666 397 PubMed: Brooks 2018 family 58 M - United States - - - - - retinal disease polydactylyoculomotor apraxia, nystagmus, strabismus, ptosis, vessel attenuation, optic nerve atrophy 2 1 LOVD
00377667 502 PubMed: Brooks 2018 family 57 M - United States - - - - - retinal disease oculomotor apraxia, nystagmus, strabismus 2 1 LOVD
00377668 537 PubMed: Brooks 2018 family 59 M - United States - - - - - retinal disease liver disease, polydactylyoculomotor apraxia, nystagmus, ptosis 2 1 LOVD
00377669 510 PubMed: Brooks 2018 family 60 M - United States - - - - - retinal disease oculomotor apraxia, nystagmus, retinal degeneration, optic nerve atrophy 2 1 LOVD
00377670 573 PubMed: Brooks 2018 family 61 M - United States - - - - - retinal disease oculomotor apraxia, nystagmus, strabismus, vessel attenuation 2 1 LOVD
00377796 - PubMed: Otto 2011 - - no United States - - - - - retinal disease - 1 1 LOVD
00380352 - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - retinal disease Anemia, arterial hypertension. Retinitis pigmentaria 1 1 LOVD
00382564 426 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00383199 - PubMed: Leitch-2008 - F - - - - - - - retinal disease retinitis pigmentosa, obesity, polydactyly, renal disease, Sc,HT,SS,seizures 1 1 LOVD
00383200 - PubMed: Leitch-2008 - M - - Lebanese - - - - retinal disease retinitis pigmentosa, obesity, polydactyly, mental retardation, renal disease, developmental delaySeizures 1 1 LOVD
00383201 - PubMed: Leitch-2008 - M - - Saudi Arabian - - - - retinal disease retinitis pigmentosa, obesity, polydactyly, mental retardation, developmental delayDF, 1 1 LOVD
00383202 - PubMed: Leitch-2008 - M - - Turkish - - - - retinal disease obesity, polydactyly, Ns 2 1 LOVD
00383203 - PubMed: Leitch-2008 - F - - Northern European - - - - retinal disease retinitis pigmentosa, obesity, polydactyly, severe mental retardation, renal disease, developmental delayAu, 1 1 LOVD
00383204 - PubMed: Leitch-2008 - F - - Middle Eastern - - - - retinal disease retinitis pigmentosa, obesity, polydactyly, mental retardation, developmental delayEP, 1 1 LOVD
00383205 - PubMed: Leitch-2008 - F - - - - - - - retinal disease retinitis pigmentosa, severe obesity, polydactyly, mental retardation, developmental delaySeizures 1 1 LOVD
00384801 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, brachydactyly, aopy, typical facies 1 1 LOVD
00384826 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, typical facies 1 1 LOVD
00384828 - PubMed: Abu-Safieh-2012 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, typical facies, hypogenitalism 1 1 LOVD
00384839 - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, deafness, 1 1 LOVD
00384840 - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - - - - retinal disease obesity, polydactyly, aosmia, aopy, typical facies, CHD, liver disease 1 1 LOVD
00385282 - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation, anemia HTA 1 1 LOVD
00385621 6ORG PubMed: de Castro-Miró-2014 - - - - - - - - - retinal disease - 2 4 LOVD
00386784 OGI2937_004522 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00387555 - PubMed: Knopp 2015 - - - - - - - - - retinal disease - 1 1 LOVD
00387556 - PubMed: Knopp 2015 predicted as polymorphism, detected in heterozygous state in one patient with one heterozygous pathogenic MKS6 mutation but not in the as well severely affected sibling - - - - - - - - retinal disease - 1 1 LOVD
00387604 - PubMed: Watson 2016 - - - - - - - - - retinal disease - 1 1 LOVD
00388108 502 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 2 1 LOVD
00388110 510 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 2 1 LOVD
00388120 537 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 2 1 LOVD
00388133 573 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 2 1 LOVD
00408286 II: 1 PubMed: Tallapaka 2019 aborted fetus with multiple malformations; parents second cousins with one Leber congenital amaurosis child F yes India - - - - - retinal disease fetus from terminated pregnancy: autopsy: externally, midline depression in the cranium extending onto the forehead, acircular defect in the occipital region of the cranium; significant hypertelorism; the nose well formed, both lateral maxillary processes not fused; nasal process not well developed, resulting in a large median upperlip cleft; cleft palate and micrognathia abdomen distended, anal opening could not be visualized; all limbs: postaxial polydactyly, both lower limbs were internally angulated in addition to bilateral congenital talipes equinovarus; enlarged and polycystic kidneys; friable liver; thin sigmoid colon 1 1 LOVD
00414461 WHP128 PubMed: Sun 2018 - M - China - - - - - ? Joubert Syndrome 28;Bardet-Biedl Syndrome 13 2 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: 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 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: - 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 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 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 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: - 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 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 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 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 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 2 1 LOVD
00418739 COR340 PubMed: Romani 2014 - M - - - - - - - JBTS central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): +; oculomotor abnormalities: ocular: +; retinopathy: +; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: - 1 1 LOVD
00418740 COR413 PubMed: Romani 2014 - M - - - - - - - JBTS central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): +; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: -; neuroimaging: molar tooth sign: +; other central nervous system defects: - 2 1 LOVD
00418743 JBTS-10 PubMed: Slaats 2016 - - - - - - - - - JBTS cell line: longer cilia than the controls; after 48 hours of serum starvation fibroblasts were only 52.7% ciliated; phenotype: molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: present; coloboma: absent, left optic pit; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: bilateral ptosis, cryptorchidism, clinodactyly 2 1 LOVD
00418744 UW031-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absentsleep apnea treated by tonsillectomy and adenoidectomy 1 1 LOVD
00418745 UW090-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: not documented; occipital encephalocele: not documented; retinal dystrophy: not documented; coloboma: not documented; kidney disease: not documented; liver fibrosis: not documented; polydactyly: not documented 1 1 LOVD
00418746 UW091-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: not documented; retinal dystrophy: not documented; coloboma: not documented; kidney disease: not documented; liver fibrosis: not documented; polydactyly: not documented 1 1 LOVD
00418747 UW092-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: ptosis, functions 1 grade behind in school 2 1 LOVD
00418748 UW093-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: strabismus 1 1 LOVD
00418749 UW150-3 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: present; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: seizures, wheelchair-bound 1 1 LOVD
00418750 JBTS-153 PubMed: Slaats 2016 - - - - - - - - - JBTS molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: present, abnormal electroretinogram; coloboma: absent, large left optic disc; kidney disease: echogenic kidneys on ultrasound; liver fibrosis: mildly increased liver echogenicity and mildly enlarged spleen on ultrasound, mildly elevated gamma-glutamyl transpeptidase; polydactyly: bilateral postaxial; other: critical aortic stenosis, bicuspid aortic valve, atrial septal defect, left 3rd nerve palsy, strabismus, left ptosis, vertical tali 2 1 LOVD
00418751 JBTS-3504 PubMed: Slaats 2016 - - - - - - - - - JBTS cell line: longer cilia than the controls, but ciliation of fibroblasts not statistically different from the controls; molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: oculomotor apraxia, tachypnea/apnea), autism, tumor cordis (oculomotor apraxia) 2 1 LOVD
00418752 ? PubMed: Bader 2016 - M no - Austrian - - - - JBTS family history: unremarkable; 27th week of gestation: prenatal ultrasound: enlarged ventricles; invasive prenatal diagnostics: normal male karyotype; birth normal in the 41st week of gestation; growth parameters: normal; episodes of apnea during the first 7 months of life; severe hypotonia, congenital rotatory nystagmus; delay of developmental milestones; 18m: brain magnetic resonance imaging: molar tooth sign and agenesis of corpus callosum; 21m: no evidence of retinal involvement; 3y5m sitting independently; 5y2m: height and weight between the 2nd and 9th percentile, the occipitofrontal head circumference at the 9th percentile; 6y2m months of age: could not stand or walk independently; dysmorphic features: slightly broad forehead, ptosis of the left eye, epicanthus inversus, smooth philtrum, enlarged nares, and thin vermilion of the upper lip; camptodactyly of digits III and V symmetrically in both hands; genitalia small; kidney and liver: normal shape, location and function; atactic movement disorder and trunk hypotonia, no dysphagia; ability to grasp for objects and obey simple commands but no active speech, communicating with simple gestures; ability to maintain good eye contact and has friendly and charming behavior; ability to move the wheelchair by his own manual propulsion to a limited extent; not diaper-free 2 1 LOVD
00418757 IV-2 PubMed: Irfanullah 2016 - - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)158/164; weight (in kg)/mean average population weight (respective age and sex): 42/52hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : no; polydactyly (feet): no; speech impairment: yes; hearing impairment: moderate (41 to 55 dB); visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 0.7; blood urea nitrogen mg/dl: 13 1 1 LOVD
00418758 IV-3 PubMed: Irfanullah 2016 - - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)152/162; weight (in kg)/mean average population weight (respective age and sex): 38/47hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : no; polydactyly (feet): no; speech impairment: yes; hearing impairment: moderate (41 to 55 dB); visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 1; blood urea nitrogen mg/dl: 16 1 1 LOVD
00418759 IV-8 PubMed: Irfanullah 2016 proband - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)156/167; weight (in kg)/mean average population weight (respective age and sex): 35/53hypotonia: sever; ataxia: sever; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: mild; hearing impairment: mild (26 to 40 dB); visual impairment: no ; intellectual disability: apparent; molar tooth sign: yes; blood creatinine mg/dl: 0.93; blood urea nitrogen mg/dl: 13.6 1 1 LOVD
00418760 IV-9 PubMed: Irfanullah 2016 - - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)155/168; weight (in kg)/mean average population weight (respective age and sex): 46/50hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: none; hearing impairment: none; visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 1.12; blood urea nitrogen mg/dl: 12 1 1 LOVD
00418761 IV-10 PubMed: Irfanullah 2016 - - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)150/160; weight (in kg)/mean average population weight (respective age and sex): 40/42hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: none; hearing impairment: none; visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 0.85; blood urea nitrogen mg/dl: 12.8 1 1 LOVD
00418762 IV-11 PubMed: Irfanullah 2016 - - yes - Pakistani - - - - JBTS height (in cm)/mean average population height (respective age and sex)86/94; weight (in kg)/mean average population weight (respective age and sex): 28/29hypotonia: mild; ataxia: mild; polydactyly/camptodactyly : yes; polydactyly (feet): yes; speech impairment: none; hearing impairment: none; visual impairment: no; intellectual disability: none; molar tooth sign: not assessed; blood creatinine mg/dl: 0.8; blood urea nitrogen mg/dl: 13.9 1 1 LOVD
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