All individuals with variants in gene PCNT

34 entries on 1 page. Showing entries 1 - 34.
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00004045 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - 0 - - MOPD-2 preterm, IUGR, delayed motor and speech development, high-pitched voice and recurrent chest infections 1 1 Fowzan Alkuraya
00080951 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - MOPD-2 Microcephalic osteodysplastic primordial dwarfism, type II (OMIM:210720) 1 1 Daniel Trujillano
00114686 - PubMed: Elen Griffith 2008 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. M - Saudi Arabia - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114687 - PubMed: Elen Griffith 2008 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. F - Saudi Arabia - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114688 - PubMed: Willems 2009 Microdontia, Pyelic ectasia F - Morocco - - 0 - - SCKL-1 Mild intellectual disability 1 1 Emmelien Aten
00114689 - PubMed: Elen Griffith 2008 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 F - Kuwait - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114690 - PubMed: Willems 2009 Cafe au lait spots. Moyamoya disease complicated with rupture of CNS vessels. M - Algeria - - 0 - - MOPD-2 Mild intellectual disability 1 1 Emmelien Aten
00114691 - PubMed: Willems 2009 Poor sucking.Vomiting. Hyperlaxity. Horseshoe kidney.Hypertonia. Subglottic stenosis. Recurrent upper respiratory tract infections. Micropenis High squeaky, nasal voice M - Turkey - - 0 - - MOPD-2 Mild intellectual disability 1 1 Emmelien Aten
00114692 - PubMed: Willems 2009 Horseshoe kidney. Clinodactyly of fifth finger. Rupture of CNS vessels leading to death (20 years) M - France - - 0 - - SCKL-1 Mild intellectual disability 1 1 Emmelien Aten
00114693 - PubMed: Willems 2009 - F - Morocco - - 0 - - MOPD-2 - 1 1 Emmelien Aten
00114694 - PubMed: Elen Griffith 2008 Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain. M - Morocco - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114695 - PubMed: Willems 2009 Micropenis. Cafe au lait spots. Livedo reticularis. Cirrhosis. High squeaky, nasal voice M - Italy - - 0 - - MOPD-2 - 1 1 Emmelien Aten
00114696 - PubMed: Willems 2009 Cafe au lait spots, areas of depigmention Hepatic cytolysis. Subglottic stenosis Recurrent upper respiratory tract infections F - Morocco - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114697 - PubMed: Willems 2009 Sparse scalp hair. Receding forehead. Prominent curved nose, Micrognatia. Low set ears. Clinodactyly. Highpitched voice. Stridor. Upper respiratory tract infections M - Lebanon - - 0 - - SCKL-1 intellectual disability 1 1 Emmelien Aten
00114698 - PubMed: Willems 2009 Anemia. Body asymmetry Radial head dislocation M - France - - 0 - - MOPD-2 - 1 1 Emmelien Aten
00114699 - PubMed: Willems 2009 Cafe au lait spots, area of depigmentation. Polycystic ovaries. Chromosomal breakage F - Pakistan - - 0 - - SCKL-1 - 1 1 Emmelien Aten
00114700 - PubMed: Willems 2009 Hypertonia. Micropenis. ? - Morocco - - 0 - - MOPD-2 Severe intellectual disability 1 1 Emmelien Aten
00114701 - PubMed: Willems 2009 High squeaky voice. Cafe au lait spots. F - Morocco - - 0 - - MOPD-2 - 1 1 Emmelien Aten
00114702 - PubMed: Willems 2009 Poïkilodermia. Atrial septal defect. M - Sri Lanka - - 0 - - MOPD-2 - 1 1 Emmelien Aten
00293050 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293051 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 52 Mohammed Faruq
00293052 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
00293054 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 26 Mohammed Faruq
00293055 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 18 Mohammed Faruq
00293056 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 228 Mohammed Faruq
00295453 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304884 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304885 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304886 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00307960 17DG0772 PubMed: Anazi 2017 familial F - - - - 0 - - 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 - 0 - - skeletal dysplasia Developmental regression, Failure to thrive, Short stature, Microcephaly, Delayed speech No 1 1 LOVD
00359446 - - - - - (Brazil) - - 0 - - MOPD - 1 1 Cynthia Silveira
00374435 S-4839 PubMed: Ganapathy 2019 - - - India - - 0 - - ? 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 - 0 - - ? Microcephaly, microsomia, dwarfism, mild-moderate intellectual disability, mild-moderate developmental delay, failure to thrive 1 1 Johan den Dunnen
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