All individuals with variants in gene PCNT

65 entries on 1 page. Showing entries 1 - 65.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00004045 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - - - - MOPD2 preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections 1 1 Fowzan Alkuraya
00080951 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MOPD2 Microcephalic osteodysplastic primordial dwarfism, type II (OMIM:210720) 1 1 Daniel Trujillano
00114686 Fam1Pat1 PubMed: Griffith 2008 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - SCKL Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY 1 2 Emmelien Aten
00114687 Fam1Pat2 PubMed: Griffith 2008 sister F - Saudi Arabia - - - - - SCKL Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX. 1 1 Emmelien Aten
00114688 - PubMed: Willems 2010 Microdontia, Pyelic ectasia F - Morocco - - - - - SCKL1 Mild intellectual disability 1 1 Emmelien Aten
00114689 Fam3 PubMed: Griffith 2008 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents F yes Kuwait - - - - - SCKL Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal 1 1 Emmelien Aten
00114690 - PubMed: Willems 2010 Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels. M - Algeria - - - - - MOPD2 Mild intellectual disability 1 1 Emmelien Aten
00114691 - PubMed: Willems 2010 Poor sucking.Vomiting. Hyperlaxity. Horseshoe kidney.Hypertonia. Subglottic stenosis. Recurrent upper respiratory tract infections. Micropenis High squeaky, nasal voice M - Turkey - - - - - MOPD2 Mild intellectual disability 1 1 Emmelien Aten
00114692 - PubMed: Willems 2010 Horseshoe kidney. Clinodactyly of fifth finger. Rupture of CNS vessels leading to death (20 years) M - France - - - - - SCKL1 Mild intellectual disability 1 1 Emmelien Aten
00114693 - PubMed: Willems 2010 - F - Morocco - - - - - MOPD2 - 1 1 Emmelien Aten
00114694 Fam4 PubMed: Griffith 2008 2-generation family, 1 affected, unaffected heterozygous carrier 1st-cousin parents M yes Morocco - - - - - SCKL Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain. 1 1 Emmelien Aten
00114695 - PubMed: Willems 2010 Micropenis. Cafe au lait spots. Livedo reticularis. Cirrhosis. High squeaky, nasal voice M - Italy - - - - - MOPD2 - 1 1 Emmelien Aten
00114696 - PubMed: Willems 2010 Cafe au lait spots, areas of depigmention Hepatic cytolysis. Subglottic stenosis Recurrent upper respiratory tract infections F - Morocco - - - - - SCKL1 - 1 1 Emmelien Aten
00114697 - PubMed: Willems 2010 Sparse scalp hair. Receding forehead. Prominent curved nose, Micrognatia. Low set ears. Clinodactyly. Highpitched voice. Stridor. Upper respiratory tract infections M - Lebanon - - - - - SCKL1 intellectual disability 1 1 Emmelien Aten
00114698 - PubMed: Willems 2010 Anemia. Body asymmetry Radial head dislocation M - France - - - - - MOPD2 - 1 1 Emmelien Aten
00114699 - PubMed: Willems 2010 Cafe au lait spots, area of depigmentation. Polycystic ovaries. Chromosomal breakage F - Pakistan - - - - - SCKL1 - 1 1 Emmelien Aten
00114700 - PubMed: Willems 2010 Hypertonia. Micropenis. ? - Morocco - - - - - MOPD2 Severe intellectual disability 1 1 Emmelien Aten
00114701 - PubMed: Willems 2010 High squeaky voice. Cafe au lait spots. F - Morocco - - - - - MOPD2 - 1 1 Emmelien Aten
00114702 - PubMed: Willems 2010 Poïkilodermia. Atrial septal defect. M - Sri Lanka - - - - - MOPD2 - 1 1 Emmelien Aten
00293050 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293051 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 52 Mohammed Faruq
00293052 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00293054 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 26 Mohammed Faruq
00293055 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00293056 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 228 Mohammed Faruq
00295453 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304884 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304885 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304886 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00307960 17DG0772 PubMed: Anazi 2017 familial F - - - - - - - ID see paper; ..., Attention deficit hyperactivity disorder, Microcephaly, Autism, Sloping forehead, Brittle hair, Esotropia, Failure to thrive 1 1 Johan den Dunnen
00331541 17DG0808 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Developmental regression, Failure to thrive, Short stature, Microcephaly, Delayed speech No 1 1 LOVD
00359446 - - - - - (Brazil) - - - - - MOPD - 1 1 Cynthia Silveira
00374435 S-4839 PubMed: Ganapathy 2019 - - - India - - - - - ? Delayed motor development, obesity, global developmental delay, mild ID, microcephaly, hypertelorism, bilateral epicanthic fold, hirsutism, thick ear lobes, depressed nasal bridge and short neck with elevated total cholesterol, LDL and TSH levels 1 1 Johan den Dunnen
00390054 Pat1 PubMed: Kritioti 2021 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F yes Cyprus Greece - - - - ? Microcephaly, microsomia, dwarfism, mild-moderate intellectual disability, mild-moderate developmental delay, failure to thrive 1 1 Johan den Dunnen
00460130 Pat1 PubMed: Rauch 2008 - F yes Turkey - - - - - DWFP see paper; ..., mild developmental delay; multiple aneurysms, Moyamoya disease 1 1 Johan den Dunnen
00460131 Pat2 PubMed: Rauch 2008 - F yes - Kurdish - - - - DWFP see paper; ..., no developmental dealy; Moyamoya disease 1 1 Johan den Dunnen
00460132 Pat3 PubMed: Rauch 2008 - M yes Oman - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460133 Pat4 PubMed: Rauch 2008 - F yes Pakistan - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460134 Pat1;Pat5 PubMed: Majewski 1998, PubMed: Rauch 2008 - M no Turkey - - - - - DWFP see paper; ..., mild developmental delay 2 1 Johan den Dunnen
00460135 patient;Pat6 PubMed: Young 2004, PubMed: Rauch 2008 - F yes India - - - - - DWFP see paper; ..., severe developmental delay (normal until strokes); Moyamoya disease, multiple infarcts 1 1 Johan den Dunnen
00460136 Pat7 PubMed: Rauch 2008 - M yes India - - - - - DWFP see paper; ..., moderate developmental delay; frontal atrophy 1 1 Johan den Dunnen
00460137 Pat8 PubMed: Rauch 2008 - F yes Portugal - - - - - DWFP see paper; ..., mild-moderate developmental dealy; ischemic lesion, stroke 1 1 Johan den Dunnen
00460138 Pat9 PubMed: Rauch 2008 - M no Belgium - - - - - DWFP see paper; ..., mild developmental delay (VIQ78, PIQ53, FSIQ60); sub-arachnoid bleeding 2 1 Johan den Dunnen
00460139 Pat10 PubMed: Rauch 2008 - F yes Oman - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460140 Pat3;Pat11 PubMed: Majewski 1998, PubMed: Rauch 2008 - M no Turkey - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460141 Pat12 PubMed: Rauch 2008 - M no Germany - - - - - DWFP see paper; ..., mild developmental delay 2 1 Johan den Dunnen
00460142 PPat2;at13 PubMed: Majewski 1998, PubMed: Rauch 2008 - M yes Turkey - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460143 Pat14 PubMed: Rauch 2008 - M yes Palestine - - - - - DWFP see paper; ..., mild developmental delay; Moyamoya disease, multiple infarcts 1 1 Johan den Dunnen
00460144 Pat15a PubMed: Rauch 2008 4-generation family, 2 affected brothers M yes Netherlands - - - - - DWFP see paper; ..., severe developmental delay; enlarged ventricles 1 2 Johan den Dunnen
00460145 Pat15b PubMed: Rauch 2008 brother M yes Netherlands - - - - - DWFP see paper; ..., severe developmental delay; hydrocephalus 1 1 Johan den Dunnen
00460146 Pat16 PubMed: Rauch 2008 - M yes (Iraq) - - - - - DWFP see paper; ..., mild-moderate developmental dealy 1 1 Johan den Dunnen
00460147 Pat17 PubMed: Rauch 2008 - F yes Lebanon - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460148 Pat18 PubMed: Rauch 2008 - F no Poland - - - - - DWFP see paper; ..., borderline developmental delay (VIQ 81, PIQ 80, FSIQ 79) 1 1 Johan den Dunnen
00460149 Pat19 PubMed: Rauch 2008 - F no Netherlands - - - - - DWFP see paper; ..., mild developmental delay (IQ60-65) 2 1 Johan den Dunnen
00460150 Pat20 PubMed: Rauch 2008 - F no England - - - - - DWFP see paper; ..., no developmental dealy; Moyamoya disease, epilepsy 1 1 Johan den Dunnen
00460151 Pat21 PubMed: Rauch 2008 - M no England - - - - - DWFP see paper; ..., mild developmental delay 1 1 Johan den Dunnen
00460152 patient;Pat22 PubMed: Brancati 2005, PubMed: Rauch 2008 - M no Italy - - - - - DWFP see paper; ..., mild developmental delay; Moyamoya disease, ischemic lesion 1 1 Johan den Dunnen
00460153 Pat23 PubMed: Rauch 2008 - M no Ireland - - - - - DWFP see paper; ..., no developmental dealy 2 1 Johan den Dunnen
00460154 Pat24 PubMed: Rauch 2008 - M no Germany - - - - - DWFP see paper; ..., mild developmental delay 2 1 Johan den Dunnen
00460155 Pat25 PubMed: Rauch 2008 - F no England - - - - - DWFP see paper; ..., mild developmental delay 2 1 Johan den Dunnen
00460156 FamPatII1/2 PubMed: Kantaputra 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Thailand - - - - - MOPD see paper; ..., intra-uterine growth retardation, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia, opalescent teeth, abnormally shaped teeth, rootless molars, all teeth small, mandibular premolars unusually small/malformed, teeth loose, occlusal/incisal surfaces wore off very quickly 2 2 Johan den Dunnen
00460157 Fam2PatII1/2 PubMed: Kantaputra 2011 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - Thailand - - - - - MOPD see paper; ..., IUGR, microcephaly, prominent nose/nasal bridge, small pinnae, short stature, cone-shaped ivory-epiphyses, delayed bone age, slender long bones, abnormal pelvis; severe microdontia; skin anomalies 1 2 Johan den Dunnen
00460158 patient PubMed: Piane 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - SCKL see paper; ..., prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead, receded hairline, sparse scalp hair, beaked nose, mild retrognathia, hypotonia; 3y-paralyzed due to cerebrovascular malformation; X-ray 3y-high iliac wings, narrow ischia/pubis, overtubulated long bones, delta-shaped distal femoral metaphysis,marked widening 1 1 Johan den Dunnen
00460159 Fam1 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel Druze - - - - MOPD see paper; ... 1 1 Johan den Dunnen
00460160 Fam2 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Israel Druze - - - - MOPD see paper; ... 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.