All individuals with variants in gene PIP5K1C

13 entries on 1 page. Showing entries 1 - 13.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00104028 Vogelaar-729A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104038 Vogelaar-762A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00435628 family PubMed: Narkis 2007 5-generation family, 9 affected (6F, 3M) F;M yes Israel Bedouin - - - - LCCS see paper; ... 1 1 Johan den Dunnen
00435629 Pat1 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Kazakhstan - - - - - NDD see paper; ..., motor delay, 5y-walk; no speech; intellectual disability; no seizures; mild optic atrophy; hypotonia; MRI brain abnormal lateral ventricles (contour), abnormal white matter signal, Chiari malformation type 1 (s/p repair); coronal synostosis, mildly tapered fingers, 5th finger clinodactyly; prominent maxilla/upper lip; no micrognathia; long ears 1 1 Johan den Dunnen
00435630 Pat2 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no Romania - - - - - NDD see paper; ..., motor delay, 2y6m-walk; speech delay; intellectual disability; seizures; pale optic nerves, strabismus, myopia; no hypotonia; MRI brain abnormal white matter signal (delayed myelination), focal dysgyria, agenesis of anterior falx cerebri; mildly tapered fingers; prominent maxilla/upper lip; micrognathia; long ears 1 1 Johan den Dunnen
00435631 Pat3 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Pakistan - - - - - NDD see paper; ..., motor delay; no speech; intellectual disability; seizures; mild myopia; hypotonia; MRI brain abnormal white matter signal (hypomyelination); no; prominent maxilla/upper lip; micrognathia; long ears 1 1 Johan den Dunnen
00435632 Pat4 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no United States Europe-N;native American - - - - NDD see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; cerebral visual impairment, strabismus, nystagmus ,myopia, astigmatism; hypotonia; MRI brain abnormal white matter signal (T2 prolongation), possible focal dysgyria, cerebral atrophy; prominent metopic ridge, mildly tapered fingers, coxa valga; prominent maxilla/upper lip; micrognathia; long ears 1 1 Johan den Dunnen
00435633 Pat5 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands Europe-N;Asia - - - - NDD see paper; ..., motor delay, 2y-walk; speech delay; intellectual disability; no seizures; probable cerebral visual impairment, mild hyperopia; no hypotonia; no; prominent maxilla/upper lip; micrognathia; no long ears 1 1 Johan den Dunnen
00435634 Pat6 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - NDD see paper; ..., motor delay; no speech; intellectual disability; seizures; mild cerebral visual impairment, strabismus; no hypotonia; prominent metopic ridge, talipes equinovarus, prominent xyphoid process, short arms and hand; prominent maxilla/upper lip; micrognathia; long ears 1 1 Johan den Dunnen
00435635 Pat7 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no France - - - - - NDD see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; strabismus, astigmatism; hypotonia; MRI brain abnormal lateral ventricles (microcysts in bilateral frontal horns); no; prominent maxilla/upper lip; no micrognathia; no long ears 1 1 Johan den Dunnen
00435636 Pat8 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Italy Europe - - - - NDD see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; no ophthalmologic abnormalities; hypotonia; MRI brain abnormal lateral ventricles (contour, septum pellucidum cyst), focal dysgyria, velum interpositium cyst, increased csf spaces at the temporal poles, flattening of corpus callosum; scoliosis, small feet; prominent maxilla/upper lip; no micrognathia; long ears 1 1 Johan den Dunnen
00435637 Pat9 PubMed: Morleo 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Colombia - - - - - NDD see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures; strabismus; no hypotonia; MRI brain abnormal white matter (decreased volume in parietal lobes), possible focal dysgria, hypoplastic anterior temporal lobes, J-shaped sella; narrow fingers, distal camptodactyly, 5th finger clinodactyly, pes planus, bent 3rd toes; prominent maxilla/upper lip; micrognathia; no long ears 1 1 Johan den Dunnen
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