All individuals with variants in gene CPLX1

5 entries on 1 page. Showing entries 1 - 5.
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00050680 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly 1 2 Johan den Dunnen
00095415 FamPat1 PubMed: Redler 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Lebanon - 08y - - - EJM see paper; ..., intellectual disability, no speech, hypotonia; seizures, 6m-epileptic spasms, 6m-8m-myoclonic seizures >100/day, 36m-generalised seizures; frequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, long philtrum, thin upper lip, full cheeks, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, no hypothyreosis, brain Unilateral cerebellar cleft 1 2 Hermann-Josef Lüdecke
00095416 FamPat2 PubMed: Redler 2017 sister F yes Lebanon - - - - - EJM see paper; ..., intellectual disability, no speech, hypotonia; seizures, no epileptic spasms, 2m-6m-myoclonic seizures >150/day, 12m-generalised seizures; nfrequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, thin upper lip, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, hypothyreosis, no brain abnormalities 1 1 Hermann-Josef Lüdecke
00095418 Pat3 2-generation family, 1 affected, unaffected heterozygous carrier parents - M yes Turkey - - - - - EJM see paper; ..., intellectual disability, sit-36m, speech nearly absent, hypotonia; seizures, no epileptic spasms, 24m-myoclonic seizures >50/day, 24m-36m generalised seizures; no frequent infections, feeding problems, cranofacial anomalies, marked eyebrows, large nose with bulbous tip, long philtrum, thin upper lip, clecft palate, no internal abnormalities, bilateral conductive hearing loss, myopia, strabismus, no hypothyreosis, no brain abnormalities 1 1 Hermann-Josef Lüdecke
00150198 26539891-FamBAB6167 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, cortical atrophy, seizures 1 2 Johan den Dunnen
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