All individuals with variants in gene EIF2C1

39 entries on 1 page. Showing entries 1 - 39.
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00183685 Pat30 PubMed: Martinez 2017, Journal: Martinez 2017, PubMed: Schalk 2022 - M - Spain - - - - - ID weight increase, tall stature; mild intellectual disability/developemental delay; hypotonia; no seizures; motor delay; speech delay; autistic behaviour; stereotypies; hyperactivity; sleeping disturbance; flat nasal bridge; thin upper lip; large ears; kidney abnormality 1 1 Johan den Dunnen
00302769 702.278;Pat12;Fam12 PubMed: Hamdan 2015, Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected non carrier parents F - Canada - - - - - ID weight +2.5SD, length -0.4SD, OFC +0.1SD; moderate intellectual disability/developemental delay; seizures status epilepticus; motor delay; 24m-walk; speech delay; 36; no autistic behaviour 1 1 Johan den Dunnen
00324868 Fam1 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - NDD see paper; ..., birth 41w, weight -0.3SD, length -0.3SD; weight +0SD, length +0.6SD, OFC +0.6SD; mild intellectual disability/developemental delay; seizures; motor delay; speech delay; 12-24m-first words; autistic behaviour; stereotypies with echolalia; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; hypothyroidy, growth hormone deficiency 1 1 Johan den Dunnen
00324869 Fam2 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD see paper; ..., birth 37w, weight -1.8SD; 2y-weight +0.3SD, 2y-length 0SD, 2y-OFC +1SD; moderate intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 24m-walk; speech delay; 24m-no speech; autistic behaviour; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; plagiocephaly, brachycephaly 1 1 Johan den Dunnen
00324870 Fam3 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD see paper; ..., birth 38w, weight -0.5SD, length -1SD, OFC -0.2SD; 7y-weight -2.7SD, 7y-length -2.8SD, 7y-OFC +0.5SD; severe intellectual disability/developemental delay; seizures; motor delay; 20m-walk; speech delay; autistic behaviour; no hyperactivity; feeding difficulties; sleeping disturbance; no prominent forehead; almond eyes; flat nasal bridge; thin upper lip; epicanthus; hypothyroidy, periodic fever 1 1 Johan den Dunnen
00324871 Fam4 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain white - - - - NDD see paper; ..., birth 37,1w, weight -2.3SD, length -1.18SD, OFC -1.71SD; weight -2.33SD, length -2.77SD, OFC -1SD; intellectual disability/developemental delay; no seizures; motor delay; 18m-walk; speech delay; autistic behaviour; stereotypies; hyperactivity; aggressiveness; feeding difficulties; sleeping disturbance; wide mouth, high; MRI corpus callosum hypoplasia, bilateral hippocampal dysplasia 1 1 Johan den Dunnen
00324872 Fam5 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., birth weight -1.6SD; weight -3.9SD, length -3.3SD, OFC -0.6SD; hypotonia; no seizures; motor delay; no at 24m-not walking; speech delay; autistic behaviour; stereotypies with echolalia; no hyperactivity; sleeping disturbance; small nose; hypoplastic teeth, reduced enamel 1 1 Johan den Dunnen
00324873 Fam6 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD see paper; ..., birth 41w, weight +0.4SD; weight +2SD, OFC +0.3SD; moderate intellectual disability/developemental delay; motor delay; speech delay; no speech (regression); autistic behaviour; stereotypies; hyperactivity; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; 18m-fever 1 1 Johan den Dunnen
00324874 Fam7 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - - - - - NDD see paper; ..., birth 35w (dizygotic twin), weight -1.2SD, length -1.8SD, OFC -0.2SD; weight -3SD, length -2.7SD, OFC -1.5SD; severe intellectual disability/developemental delay; seizures; motor delay; 36-40m-walk; speech delay; no speech; autistic behaviour; aggressiveness; no feeding difficulties; no sleeping disturbance; prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; telecanthus; acetab dysplasia 1 1 Johan den Dunnen
00324875 Fam8 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Belgium Morocco - - - - NDD see paper; ..., birth 41w, length +0.2SD; weight -0.2SD, length -3.1SD, OFC +1.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 24m-walk; speech delay; 42m-first words; autistic behaviour; hyperactivity; aggressiveness; no feeding difficulties; sleeping disturbance; almond eyes; hyperlordosis; supernumary nipple, strabismus; MRI corpus callosum agenesis, colpocephaly 1 1 Johan den Dunnen
00324876 Fam9T1 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, affected monozygotic twin sisters, unaffected non carrier parents F - France - - - - - NDD see paper; ..., birth 37w+6 (monozygotic twin), weight -1SD, length -1SD, OFC +0.5SD; weight -1,5SD, length -3SD, OFC +1SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; profound deafness, absent eye contact 1 2 Johan den Dunnen
00324877 Fam10 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - NDD see paper; ..., birth 39w, weight 0SD; 2y-weight 0SD, 7y-length -0.5SD, 8y-OFC +1.8SD; mild intellectual disability/developemental delay; no seizures; motor delay; 20m-walk; speech delay; 42m-first words; no autistic behaviour ; no hyperactivity; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip 1 1 Johan den Dunnen
00324878 Fam11 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., birth 41w, weight +0.8SD; weight -1.2SD, length -3.1SD, OFC +0.6SD; moderate intellectual disability/developemental delay; hypotonia; seizures status epilepticus; motor delay; 20m-walk; speech delay; 12m-first words; autistic behaviour; no hyperactivity; no feeding difficulties; no sleeping disturbance 1 1 Johan den Dunnen
00324879 Fam13 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., birth 42w, weight +2.9SD, length +2.2SD, OFC +3.3SD; weight -0.9SD, length -1.6SD, OFC +0.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 36m-walk; speech delay; 18; no autistic behaviour ; no stereotypies; no hyperactivity; no anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip 1 1 Johan den Dunnen
00324880 Fam14 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - NDD see paper; ..., birth 41w, weight +0.8SD, length +2SD, OFC +0.7SD; weight 4SD, length +1.5SD, OFC -0.6SD; moderate intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 20m-walk; speech delay; 36m-no speech; autistic behaviour; hyperactivity; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; brachycephaly 1 1 Johan den Dunnen
00324881 Fam15 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - NDD see paper; ..., birth 40w, weight +0.5SD, length -0.8SD, OFC -0.9SD; weight -1SD, length -0.6SD, OFC -1.8SD; moderate intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 22m-walk; speech delay; 42; no autistic behaviour ; no stereotypies; hyperactivity; no feeding difficulties; no sleeping disturbance; deep set ears; mild ataxia, abnormality kidney 1 1 Johan den Dunnen
00324882 Fam16 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD see paper; ..., weight +4.1SD, length +0.3SD, OFC +2.3SD; moderate intellectual disability/developemental delay; seizures; speech delay; autistic behaviour; aggressiveness; sleeping disturbance; supernum. nipple 1 1 Johan den Dunnen
00324883 Fam17 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD see paper; ..., birth 41w, weight +0.2SD, length -1SD, OFC +1.2SD; weight -0.3SD, length -0.5SD, OFC +1.9SD; mild intellectual disability/developemental delay; no hypotonia; seizures; no motor delay; 12m-walk; speech delay; 36m-first words; autistic behaviour; hyperactivity; no feeding difficulties; no sleeping 1 1 Johan den Dunnen
00324884 Fam18 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - NDD see paper; ..., birth weight -0.2SD; weight +0.5SD, length -0.5SD, OFC +1,3SD; mild intellectual disability/developemental delay; no hypotonia; seizures; no motor delay; speech delay; no autistic behaviour ; hyperactivity; anxiety; aggressiveness; no feeding difficulties; no sleeping disturbance; flat nasal bridge; epicanthus 1 1 Johan den Dunnen
00324885 Fam19 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Khosian - - - - NDD see paper; ..., birth weight -1.5SD, length -0.5SD, OFC -2SD; weight -1SD, length -4.8SD, OFC +0.5SD; moderate intellectual disability/developemental delay; no seizures; motor delay; 21m-walk; speech delay; no speech; autistic behaviour; stereotypies; no hyperactivity; aggressiveness; sleeping disturbance; prominent forehead; no thin upper lip; macrocephaly 1 1 Johan den Dunnen
00324886 Fam20 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD see paper; ..., birth 39w, weight +0.5SD, length -0.9SD, OFC +0.6SD; weight -1.8SD, length -2.5SD, OFC +0.1SD; severe intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 30m-walk; speech delay; 16m-first words; autistic behaviour; no hyperactivity; no aggressiveness; no feeding difficulties; no sleeping disturbance; thin upper lip; glabellar hemangioma, 2 café au lait spots 1 1 Johan den Dunnen
00324887 Fam21 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus 1 1 Johan den Dunnen
00324888 Fam22 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., birth 41w, weight -0.2SD, length -1.3SD, OFC -3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; mild intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 41m-walk; speech delay; 19m-first words; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; metatarsus adductus, lymphedema feet 1 1 Johan den Dunnen
00324889 Fam23 Journal: Schalk 2020, PubMed: Schalk 2022 - M - United States - - - - - NDD see paper; ..., birth weight +0.4SD; weight +5.5SD, length +1.8SD, OFC +1.2SD; borderline intellectual disability/developemental delay; motor delay; 18m-walk; speech delay; autistic behaviour; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; flat nasal bridge 1 1 Johan den Dunnen
00324890 Fam24PatA Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 2 affected twin sisters, unaffected non carrier parents F - France - - - - - NDD see paper; ..., birth 34w (monozygotic twin), weight -0,5SD, length -2,3SD, OFC <-2SD; weight -2SD, length -1.5SD, OFC -3.9SD; severe intellectual disability/developemental delay; no seizures; motor delay; 25m-walk; speech delay; 36-42m-first words; autistic behaviour; hyperactivity; anxiety; aggressiveness; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; camptodactyly 1 2 Johan den Dunnen
00324891 Fam25 Journal: Schalk 2020, PubMed: Schalk 2022 - M - United States - - - - - NDD see paper; ..., birth 365 (twin), weight -2.2SD; weight -0.9SD, length -1.7SD, OFC -1.8SD; borderline intellectual disability/developemental delay; no seizures; motor delay; 18m-walk; speech delay; 36-48m-first words; autistic behaviour; stereotypies; hyperactivity; anxiety; aggressiveness; feeding difficulties; flat nasal bridge; no thin upper lip; epicanthus; nystagmus 1 1 Johan den Dunnen
00324892 Fam26 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - NDD see paper; ..., birth 39w, weight +0.9SD, length +0.5SD, OFC +1SD; weight -1.35SD, length -1.1SD, OFC +1.5SD; mild intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 18m-walk; speech delay; no autistic behaviour ; no stereotypies; hyperactivity; anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no almond eyes; no flat nasal bridge; no thin upper lip; strabismus; hypermetropia, gastro-esophageal reflux during first months of life 1 1 Johan den Dunnen
00324893 ? PubMed: DDDS 2017 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ...intellectual disability/developemental delay 1 1 Johan den Dunnen
00324894 ? PubMed: Sanders 2012, PubMed: Schalk 2022 - M - - - - - - - NDD see paper; ..., autistic behaviour 1 1 Johan den Dunnen
00324895 ? PubMed: Sakaguchi 2019, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - NDD see paper; ..., birth 41w, weight +2.4SD, length +1.5SD, OFC +1.1SD; weight -1.2SD, length -2.6SD, OFC +1.0SD; moderate intellectual disability/developemental delay; hypotonia; motor delay; almond eyes; flat nasal bridge; telecanthus 1 1 Johan den Dunnen
00324896 ?;Rauch PubMed: Rauch 2012, PubMed: Schalk 2022 - F - - - - - - - NDD see paper; ..., birth 42w; length -1.8SD, OFC -0.9SD; severe intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 48m-walk; speech delay 1 1 Johan den Dunnen
00418591 Fam9T2 PubMed: Schalk 2022 twin sister F - France - - - - - NDD see paper; ..., birth 37w+6 (monozygotic twin), length -1,5SD, OFC +0.5SD; weight -2SD, length -3SD, OFC +0SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; mild deafness, absent eye contact 1 1 Johan den Dunnen
00418592 Fam24PatB PubMed: Schalk 2022 twin sister F - France - - - - - NDD see paper;..., birth 34w (monozygotic twin), weight +0.3SD, length -1.1SD, OFC <-2SD; weight -1.8SD, length -0.9SD, OFC -3.9SD; moderate intellectual disability/developemental delay; no seizures; motor delay; 25m-walk; speech delay; 36-42m-first words; autistic behaviour; hyperactivity; anxiety; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; camptodactyly 1 1 Johan den Dunnen
00418627 Pat1 PubMed: Tokita 2015 2-generation family, 1 affected, unaffected parents F - Germany;Norway - - - - - NDD see paper; ..., birth 38w, pregnancy/delivery uncomplicated; weight 15th%, Height 24th%, OFC 3rd-10th%; motor delay; speech delay; high nasal bridge, upturned nasal tip, mildly down-slanting palpebral fissures, high-arched palate with dental crowding, retrognathia, long-appearing fingers, dysplastic toenails, pronated feet; poor feeding; hypotonia; velopharyngeal insufficiency; astigmatism; male cousin with possible pervasive developmental delay 1 1 Johan den Dunnen
00418628 Pat2 PubMed: Tokita 2015 2-generation family, 1 affected, unaffected non carrier parents F no France - - - - - NDD see paper; ..., birth 37w, pregnancy/delivery uncomplicated; weight 2nd%, height 24th%, OFC 25th%; motor delay; speech delay; special education; bilateral epicanthal folds, triangular upper lip, fullness of periorbital region, long thin fingers; poor feeding; hypotonia; velopharyngeal insufficiency; buccofacial dyspraxia 1 1 Johan den Dunnen
00418629 Pat3 PubMed: Tokita 2015 2-generation family, 1 affected, unaffected non carrier parents F - Italy - - - - - NDD see paper; ..., birth 42w, pregnancy/delivery uncomplicated; weight 5thd%, height 50th%, OFC <3rd%; motor delay; speech delay; moderate intellectual disability; long hypotonic face, bitemporal narrowing, down-slanting palpebral fissures, ptosis, small ears, retrognathia, high-arched palate, maxillary hypoplasia, long mandible, flat feet; poor feeding; hypotonia; velopharyngeal insufficiency; severe bilateral hip dislocation, joint laxity, nasal voice 1 1 Johan den Dunnen
00418630 Pat4 PubMed: Tokita 2015 2-generation family, 1 affected, unaffected non carrier parents M no Germany - - - - - NDD see paper; ..., birth 41w, 23w-intra uterine growth retardation, neonatal sepsis; weight 1st (-2.4SD), height <1st (-3.2SD), OFC <1st (-3.3SD); motor delay; speech delay; prominent forehead, deep-set eyes, short palpebral fissures, small chin; poor feeding; hypotonia; no velopharyngeal insufficiency; hypospadias 1 1 Johan den Dunnen
00418637 Pat5 PubMed: Tokita 2015 2-generation family, 1 affected, unaffected non carrier parents M no Romania - - - - - NDD see paper; ..., birth 38w, intra uterine growth retardation, perinatal asphyxia; weight >97th, height 90-97th, OFC 2nd-10th; speech delay; moderate intellectual disability; flat occiput, straight eyebrows, small mouth, bifid uvula, highly arched palate, dorsal left convex kyphoscoliosis, bilateral pes planus; poor feeding; hypotonia; no velopharyngeal insufficiency; joint laxity 1 1 Johan den Dunnen
00464559 323597 - - F no Germany - - - - - NDD Intellectual disability, Seizure 1 1 Andreas Laner
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