All individuals with variants in gene SRPK3

16 entries on 1 page. Showing entries 1 - 16.
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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) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00173505 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00419928 - PubMed: Pelin 2023 - M no Finland - <05y - - - CMYO4B Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687). 1 1 Lydia Sagath
00447962 FamPatII1 PubMed: Chia 2018 2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs M yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies 1 4 Johan den Dunnen
00447963 FamPatII4 PubMed: Chia 2018 affected sister F yes Jordan - - - - - NDD see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies 1 1 Johan den Dunnen
00457973 Fam1PatII1 PubMed: Roychaudhury 2024 3-generation family, 5 affected (5M), 5 unaffected carrier females M - Canada - - - - - ID see paper; ..., global developmental delay; severe intellectual disability; prominent forehead, macrocephaly; no vision impairment, no hearing impairment; verbal; contractures of digits; MRI brain enlargement lateral ventricles and 3rd/4th ventricles, partial absence corpus callosum 1 5 Johan den Dunnen
00457974 Fam1PatIII3 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - ID see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, partial agenesis corpus callosum, colpocephaly 1 1 Johan den Dunnen
00457975 Fam1PatIII4 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - ID see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor attention span; no vision impairment, no hearing impairment; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, agenesis corpus callosum, colpocephaly 1 1 Johan den Dunnen
00457976 Fam1PatIII5 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - ID see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor attention span, emotional instability; no vision impairment, no hearing impairment; delayed speech; delayed motor development; 1 1 Johan den Dunnen
00457977 Fam1PatIII7 PubMed: Roychaudhury 2024 nephew M - Canada - - - - - ID see paper; ..., global developmental delay; moderate intellectual disability (IQ 60-70); delayed language skills; no dysmorphic features; poor balance and postural reaction with poor integration of vestibular stimulation; verbal; delayed motor development; MRI brain irregular and asymmetrically dilated lateral ventricles, white matter loss, partial agenesis corpus callosum 1 1 Johan den Dunnen
00457978 Fam2 PubMed: Roychaudhury 2024 3-generation family, 1 affected, unaffected carrier mother M - United States - - - - - ID learning problems, borderline intellectual disability (IQ low normal); no dysmorphic features; ataxia, vertigo; lazy eye at birth, strabismus, hyperacute; no hearing impairment; speech disturbance; CT PET slightly decreased cerebellar uptake 1 1 Johan den Dunnen
00457979 Fam3PatIII1 PubMed: Roychaudhury 2024 3-generation family, 2 affected (boy, maternal uncle), unaffected carrier mother M - United States - - - - - ID see paper; ..., global developmental delay; learning difficulties (IQ unknown); no dysmorphic features; ataxia, proximal muscle weakness; abnormal smooth pursuit in eye movement; no hearing impairment; mild muscle weakness; MRI brain loss of volume within posterior body corpus callosum 1 2 Johan den Dunnen
00457980 Fam4 PubMed: Roychaudhury 2024 patient M - Italy - - - - - ID see paper; ..., global developmental delay; severe intellectual disability; no dysmorphic features; hypotonia, dystonic/dyskinetic limb movements, absence trunk control; no psychiatric feature; no vision impairment, no hearing impairment; no speech; delayed motor development; MRI brain 8m/2y-normal 1 1 Johan den Dunnen
00457981 Fam5 PubMed: Roychaudhury 2024 patient M - Guatemala Hispanic <1m - - - ID see paper; ..., died several weeks after birth; no dysmorphic features; congenital inner ear anomalies; no vision impairment; MRI brain absent bilateral mid and posterior cerebral hemispheres, cerebellar hypoplasia, enlarged cisterna magna, dilated left lateral ventricle related to obstructive hydrocephalus, polymicrogyria 1 1 Johan den Dunnen
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