All individuals with variants in gene C2CD3

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     
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00163842 Family1_Proband - - M no United States - - - - - OFD14 Dandy-Walker malformation (HP:0001305), molar-tooth sign (HP:0002419), developmental delay (HP:0001263), microcephaly (HP:0000252), cleft upper lip (HP:0000204), natal tooth (HP:0000695), hamartoma of tongue (HP:0011802), microretrognathia (HP:0000308), postaxial polydactyly (HP:0100259), cryptorchidism (HP:0000028), patent ductus arteriosis (HP:0001643); retinal coloboma (HP:0000480), hypotonia (HP:0001290) 2 1 Nicole Boczek
00163924 Family2_Proband - - F no - - - - - - OFD14 Occipital encephalocele (HP:0002085), bifid tongue (HP:0010297), sloping forehead (HP:0000340), microretrognathia (HP:0000308), ventricular septal defect (HP:0001629), hypoplastic thyroid (HP:0005990) 2 1 Nicole Boczek
00163925 Family3_Proband - - M no - - - - - - OFD14 molar tooth sign (HP:0002419), global developmental delay (HP:0001263), lobulated tongue (HP:0000180), micrognathia (HP:0000347), retinal coloboma (HP:0000480), posteriorly rotated ears (HP:0000358), intrauterine growth restriction (HP:0001511), hypotonia (HP:0001290) 2 1 Nicole Boczek
00163996 Fam581Pat1299,472 PubMed: Srour 2015 2-generation family, 2 affected bothers, unaffected heterozygous carrier parents M no Canada French-Canadian - - - - JBTS see paper; ... 2 2 Johan den Dunnen
00163997 24997988-Pat1 PubMed: Thauvin-Robinet 2014 2-generation family, affected brother and neonatally deceased younger sister, unaffected heterozygous carrier parents/relatives M yes Lebanon - - - - - OFD14 facial dysmorphism, cleft tongue, lobulated tongue, buccal frenulae, lingual hamartoma, cleft palate, absent epiglottis, supernumary teeth, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (OFC 42.3cm, -5 SD); no ataxia, no abnormal eye movements, no nystagmus, no ventilatory disorders (apnea, hyperpnea), no deafness, retinopathy, intellectual disability; walking, no speech; molar tooth signs; incomplete corpus callosum agenesis, subarachnoid cysts, myelinisation defect, no cardiac malformations, no abdominorenal malformations; micropenis; sister similar anomalies and cardiac malformation leading to neonatal death 1 1 Johan den Dunnen
00163998 24997988-Pat2 PubMed: Thauvin-Robinet 2014 male fetus M no France - - - - - OFD14 fetus 22w gestation; facial dysmorphism, no cleft tongue, no lobulated tongue, buccal frenulae, no lingual hamartoma, no cleft palate, no absent epiglottis, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (brain weight 50g, -4 SD); vermian hypoplasia; incomplete corpus callosum agenesis, subarachnoid cysts, no myelinisation defect, no cardiac malformations; right renal hypoplasia; micropenis 2 1 Johan den Dunnen
00290531 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 67 Mohammed Faruq
00290532 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304319 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304320 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00363571 Fam581Pat1294,472 PubMed: Srour 2015 relative M - Canada French-Canadian - - - - JBTS see paper; ... 2 1 LOVD
00372145 UW157-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00372146 UW293-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
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