All individuals with variants in gene LRP2

26 entries on 1 page. Showing entries 1 - 26.
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00050386 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, postnatal microcephaly, hypoplasia of the corpus callosum, infantile axial hypotonia, broad-based gait, paroxysmal dyskinesia, generalized tonic-clonic seizures, abnormality of vision evoked potentials, congenital strabismus, hypermetropia 2 1 Johan den Dunnen
00050441 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, hearing impairment, hip dislocation, seizures, constipation, stenosis of the external auditory canal, preauricular skin tag, hypoplasia of teeth, omphalocele, postaxial polydactyly (hands), hypertelorism, blepharophimosis, clitoromegaly, talipes equinovarus, joint hypermobility, long clavicles, gastroesophageal reflux, short stature 2 1 Johan den Dunnen
00131892 - - - M no Italy - >69y 0 - - DBS - 2 1 Franca Anglani
00131950 Case 2 - - M ? Italy African - 0 - - DBS Hypertelorism (HP:0000316), Broad forehead (HP:0000337), Parietal bossing (HP:0000242), Cryptorchidism (HP:0000028), Low-molecular-weight proteinuria (HP:0003126), Hypercalciuria (HP:0002150), Severe Myopia (HP:0011003), Retinal detachment (HP:0000541) 1 1 Mauro Longoni
00183072 23033978-Trio81 PubMed: de Ligt 2012 - M - Netherlands - - 0 - - ID see paper; … 1 1 Johan den Dunnen
00275664 FamMR124Pat1 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - ID OFC 50cm; IQ 40, moderate intellectual disability (HP:0002342); slightly aggressive behavior, mild 1 4 Johan den Dunnen
00275665 FamMR124Pat2 PubMed: Santos-Cortez 2018 - M yes Pakistan - - 0 - - ID OFC 50.5cm; IQ 40, moderate intellectual disability (HP:0002342); delay in ambulation 1 1 Johan den Dunnen
00292351 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00292352 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 155 Mohammed Faruq
00292353 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00292354 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00292355 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 130 Mohammed Faruq
00292356 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 30 Mohammed Faruq
00292357 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292358 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 72 Mohammed Faruq
00292359 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292360 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292361 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 128 Mohammed Faruq
00292362 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00292363 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
00304712 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00304713 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00304714 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304715 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00328290 W000161 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - 0 - - retinal disease - 2 1 LOVD
00390300 W000161 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - 0 - - retinal disease - 2 1 LOVD
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