All individuals with variants in gene CHAMP1

18 entries on 1 page. Showing entries 1 - 18.
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00047291 - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Germany Germany - - - - ID OFC 4y 48cm(-2.5SD); no speech, muscular hypotonia, walk(support)-4y, friendly behaviour, orofacial hypotonia, long face, no epicanthic folds, no upslanting palpebral fissures, short philtrum, open-mouth (salivation), thin/tented upper lip, everted lower lip, high arched palate, pointed chin, no low set ears, strabismus, hyperopia,joint hypermobility, neanatal feeding difficulties, umbilical hernia, decreased pain sensation, no recurrent upper air tract infections; brain-MRI mild brain atrophy, cerebellar cortical dysplasia; birth 40w; weight 3520/-0.4; length 52/-0.2; OFC 33/-2.0; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 1 1 Davor Lessel
00047292 - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Netherlands Dutch - - - - ID no speech, muscular hypotonia, walk(support)-3y, friendly behaviour, no orofacial hypotonia, no long face, epicanthic folds, upslanting palpebral fissures, short philtrum, no open-mouth, tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, no joint hypermobility, neanatal feeding difficulties, umbilical hernia, no decreased pain sensation, recurrent upper air tract infections; brain-MRI slightly delayed myelination; birth 39w; weight 3,580/0.2;; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 1 1 Davor Lessel
00047293 - PubMed: Hempel 2015, Journal: Hempel 2015 - M no Netherlands Dutch - - - - ID muscular hypotonia, walk(support)-2y6m, friendly behaviour, orofacial hypotonia, long face, no epicanthic folds, upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, no pointed chin, low set ears, strabismus, hyperopia, joint hypermobility, neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, recurrent upper air tract infections; 1y-brain-MRI normal; last examination weight 50/-2.7, lebgth 160/-2.9, OFC 52.2/-3.1; birth 39w; weight 3100/-0.9; length 49/-1.3; OFC (6w) 35.6/-2.1; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260) 1 1 Davor Lessel
00047294 - PubMed: Hempel 2015, Journal: Hempel 2015 - F no Netherlands Dutch - - - - ID muscular hypotonia, walk(support)-1y6m, friendly behaviour, orofacial hypotonia, no long face, epicanthic folds, no upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, no pointed chin, no low set ears, no strabismus, hyperopia, no joint hypermobility, neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, recurrent upper air tract infections; 3m-brain-MRI normal; birth 37w; weight 3105/0.3; length 50/1.0; OFC 29.5/-3.1; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260) 1 1 Davor Lessel
00047295 - PubMed: Hempel 2015, Journal: Hempel 2015 - F no Germany German - - - - ID muscular hypotonia, walk(support)-1y8m, friendly behaviour, orofacial hypotonia, long face, epicanthic folds, upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, hyperopia, no joint hypermobility, no neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, no recurrent upper air tract infections; 3y-brain-MRI normal; birth 40w; weight 4100/01.5; length 53/0.6; OFC (4w) 35/-0.4; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260) 1 1 Davor Lessel
00050147 - PubMed: Isidor 2016, Journal: Isidor 2016 - F no United Kingdom (Great Britain) - - - - - ID no growth failure, behavioural anomalies, no eye anomalies, no skeletal abnormalities, facial dysmorphism; birth at term; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); severe speech delay (HP:0000750) 1 1 Sébastien Küry
00050148 - PubMed: Isidor 2016, Journal: Isidor 2016 healthy younger brother M no United Kingdom (Great Britain) - - - - - ID no growth failure, normal behaviour, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344) 1 1 Sébastien Küry
00050149 - PubMed: Isidor 2016, Journal: Isidor 2016 - M no United States - - - - - ID growth failure, behavioural anomalies, no eye anomalies, no skeletal abnormalities, facial dysmorphism?; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344) 1 1 Sébastien Küry
00050150 - PubMed: Isidor 2016, Journal: Isidor 2016 healthy younger sister F no United Kingdom (Great Britain) - - - - - ID no growth failure, normal behaviour, eye anomalies, no skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750) 1 1 Sébastien Küry
00050151 Fam3PatII1;1242500 PubMed: Isidor 2016, Journal: Isidor 2016, PubMed: Hamdan 2017 - F no United States - - - - - ID no growth failure, behavioural anomalies, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750) 1 1 Sébastien Küry
00050152 - PubMed: Isidor 2016, Journal: Isidor 2016 - M no France - - - - - ID growth failure, normal behaviour, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344) 1 1 Sébastien Küry
00050484 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, obstructive sleep apnea, supernumerary nipples, plagiocephaly 1 1 Johan den Dunnen
00050523 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, joint hypermobility, abnormality of the renal collecting system, abnormality of the central nervous system, incoordination, diastasis recti 1 1 Johan den Dunnen
00308039 Pat18 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, microcephaly, muscular hypotonia 1 1 Johan den Dunnen
00320139 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Intestinal pseudo-obstruction (HP:0004389) 1 1 IMGAG
00435547 Pat84 PubMed: Rots 2023 family, has father M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w+1d; language/speech delay, babbling but no first words yet; motor delay, not walking; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; torticollis, lingual frenulum; prominet forehead and nasal roo, pprominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00448200 Pat45 PubMed: Poli 2024 - F - Chile - - - - - ? global developmental delay; seizure; craniosynostosis; short stature; strabismus; dysmorphic facial features; 1 1 Johan den Dunnen
00466217 342127 - - M no Bosnia and Herzegovina - - - - - NEDHILD;MRD40 Hypotonia, Delayed gross motor development, Delayed speech and language development, Astigmatism 1 1 Andreas Laner
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