All individuals with variants in gene CPSF3L

16 entries on 1 page. Showing entries 1 - 16.
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00435048 Fam1Pat1 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 2 affected, unaffected heterozygous parents F - Italy white 18y - - - NDD see paper; ..., 18y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain progressive cerebral atrophy, gyral semplification, pontocerebellar atrophy; hypotonia; seizures; microcephaly; optic atrophy; intra-uterine growth retardation; no facial dysmorphisms 2 2 Johan den Dunnen
00435049 Fam1Pat2 PubMed: Tepe 2023, Journal: Tepe 2023 sister F - Italy white 6y - - - NDD see paper; ..., 6y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain progressive cerebral atrophy, gyral semplification, pontocerebellar atrophy; hypotonia; seizures; microcephaly; optic atrophy; intra-uterine growth retardation; no facial dysmorphisms 2 1 Johan den Dunnen
00435050 Fam2Pat3 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, affected monozygotic twins, unaffected heterozygous parents F - United States white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar hypoplasia, abnormal appearance posterior fossa; hypotonia; no seizures; no microcephaly; strabismus, myopia; ; hypertelorism, triangular face 2 2 Johan den Dunnen
00435051 Fam2Pat4 PubMed: Tepe 2023, Journal: Tepe 2023 monozygotic twin sister F - United States white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; ; hypotonia; no seizures; no microcephaly; myopia; ; hypertelorism, triangular face 2 1 Johan den Dunnen
00435052 Fam3Pat5 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - United States white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mild to moderate cerebellar atrophy; ; no seizures; no microcephaly; mild optic atrophy; no prenatal findings; no facial dysmorphisms 2 1 Johan den Dunnen
00435053 Fam4Pat6 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - United States white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain subtle peripheral white matter hyperintensity around occipital horns and to lesser extent frontal regions; ; no seizures; no microcephaly; no optic findings; no prenatal findings; no facial dysmorphisms 2 1 Johan den Dunnen
00435054 Fam5Pat7 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - United States white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain simplified gyral pattern with agenesis corpus callosum, enlarged ventricles; no hypotonia; seizures; microcephaly; ; ; fontanelles closed at birth, low set ears 2 1 Johan den Dunnen
00435055 Fam6Pat8 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - France white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar progressive hypoplasia; no hypotonia; no seizures; microcephaly; no optic findings; intra-uterine growth retardation; narrow palate, retrognathism, prominent incisors, coarse facies 2 1 Johan den Dunnen
00435056 Fam7Pat9 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - Germany white - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; progressive supratentorial and infratentorial atrophy, leukoencephalopathy; hypotonia; seizures; microcephaly; optic atrophy; prenatal HELLP syndrome; prominent glabella, receding forehead 2 1 Johan den Dunnen
00435057 Fam8Pat10 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 2 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) Bangladesh - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 2y-small cerebellum, delayed myelination; hypotonia; no seizures; microcephaly; retinal dystrophy; prenatal gestational diabetes, mild intra-uterine growth retardation; no facial dysmorphisms 2 2 Johan den Dunnen
00435058 Fam8Pat11 PubMed: Tepe 2023, Journal: Tepe 2023 sister F - United Kingdom (Great Britain) Bangladesh - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 9y-progressive cerebellar atrophy, milder pontine volume loss, diffuse white matter signal changes; hypotonia; one seizure; no microcephaly; retinal dystrophy; also hypermetropia; prenatal 33w-gestational diabetes, premature; no facial dysmorphisms 2 1 Johan den Dunnen
00435059 Fam9Pat12 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - France Algeria - - - - NDD see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar atrophy; no hypotonia; no seizures; microcephaly; astigmatism; intra-uterine growth retardation; short forehead, epicanthic fold, bifid uvula 2 1 Johan den Dunnen
00435060 Fam10Pat13 PubMed: Tepe 2023, Journal: Tepe 2023 2-generation family, 3 affected, unaffected heterozygous parents F yes Israel Arab Muslim - - - - NDD see paper; ..., deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mild brain atrophy; hypotonia; no seizures; microcephaly; no optic findings; no prenatal findings; coarse face, broad nose and flat nasal bridge, thin upper lip, and wide mouth with macroglossia 1 3 Johan den Dunnen
00435061 Fam10Pat14 PubMed: Tepe 2023, Journal: Tepe 2023 sister F yes Israel Arab Muslim 13y - - - NDD see paper; ..., 13y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mildly dilated 4th ventricle, suspected mild atrophy cerebellum; hypotonia; no seizures; microcephaly; no optic findings; prenatal microcephaly; coarse facial features, broad nose, large mouth 1 1 Johan den Dunnen
00435062 Fam10Pat15 PubMed: Tepe 2023, Journal: Tepe 2023 sister F yes Israel Arab Muslim - - - - NDD see paper; ..., deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain periventricular signal hyperintensity interpreted as suspected delayed myelinization; hypotonia; no seizures; microcephaly; optic atrophy; no prenatal findings; coarse face, broad nose and flat nasal bridge 1 1 Johan den Dunnen
00444513 Pat15 PubMed: Riquin 2023 patient F - France - - - - - NDD Severe global developmental delay, walked at 4 years old, short stature, cerebellar atrophy 2 1 Johan den Dunnen
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