All individuals with variants in gene CSNK2A1

30 entries on 1 page. Showing entries 1 - 30.
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00324473 - - - F - - - - - - - ? Iris coloboma (HP:0000612); Global developmental delay (HP:0001263); Congenital microcephaly (HP:0011451) 1 1 IMGAG
00458252 - - - F - - (not applicable) white - - - - epilepsy HP:0001256, HP:0001250, HP:0000750, HP:0000252 1 1 Marketa Wayhelova
00462608 patient PubMed: Liu 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - ? see paper; ..., 3y-global developmental delay, postnatal growth failure, feeding difficulties, self‐injurious behaviors, recurrent infections; birth weight 3.6kg (55th), height 52.1cm (79th), OFC 34.9cm (32th); 18m-progressive growth failure (height 72.6cm (2.6th), weight 8.7kg (0.2th), OFC 46cm (8.3th), global developmental delay, mild bilateral conductive hearing loss due to recurrent otitis media, hypertelorism, epicanthal folds, flat nasal bridge, mild cupid's bow lip, mild generalized hypotonia 1 1 Johan den Dunnen
00464039 Pat1 PubMed: Okur 2016 - F - United States - - - - - NDD see paper; ... 35w-birth weight 1796 g (3-10%), length 44cm (3-10%), OFC 29 cm (<3%); 3y-OFC 46.4 cm (<3%); intellectual disability; developmental delay; 15m-sit; 28m-walk; after 2y-speech 200 words, short sentences; hypotonia, tantrums, attention deficit/hyperactivity disorder features, ataxia; MRI brain pachygria, microcephaly; hypertelorism, low set folded ears, high palate, micrognathia, ptosis, high arched eyebrows, 5th finger clinodactyly, brachydactyly, unilateral single palmar crease; no musculo-skeletal anomalies; no gastrointestinal issues; no immunologic anomalies; birth umbilical hernia; palmar erythema, cutis marmorata 1 1 Johan den Dunnen
00464040 Pat2 PubMed: Okur 2016 - F - United States - - - - - NDD see paper; ..., birth weight 2551 g (3-10%), length 44.5 cm (<3%); 4.5y-OFC 48 cm (12%); intellectual disability; developmental delay; 1y-sit; 2y-walk; 22m-speech 2 words, still impaired speech ability; past hypotonia volatile tantrums; MRI brain relative underdevelopment left operculum, some secondary enlargement Sylvian fissure; round face, epicanthal folds, slightly low set ears, cupped ears that protrude, high palate, thin upper lip, generous tongue that protrudes, thin hair, mild synophrys, arched eyebrows; wears leg braces for gait abnormality; failure to thrive, G-tube, severe gastroesophageal reflux disease. silent aspiration, pharyngeal dysphagia issues; hypogammaglobulinemia requiring intravenous immunoglobulin; polyhydramnios, laryngomalacia at birth, dry skin, labial adhesions, intermittent esotropia 1 1 Johan den Dunnen
00464041 Pat3 PubMed: Okur 2016 - F - United States - - - - - NDD see paper; ..., birth weight 2950 g (10-25%), length 50 cm (50-75%), OFC 32 cm (5-10%); 4y-OFC 46 cm (<3%); intellectual disability; developmental delay; 12m-sit; 4y-not walking; 4y-no speech; clapping, hand-flapping, atonic seizures, ataxia, sleep problems; MRI brain simple gyral cortication, no significant structural defects; broad nasal bridge, short upturned nose, epicanthal folds; no musculo-skeletal anomalies; constipation; no immunologic anomalies; heat intolerance, mild hearing loss 1 1 Johan den Dunnen
00464042 Pat4 PubMed: Okur 2016 - F - United States - - - - - NDD see paper; ..., birth weight 3486 g (50-75%), length 48.2 cm (25-50%), OFC normal; 13y_OFC 55 cm (75-90%); intellectual disability (IQ60); developmental delay; 10m-sit; 16m-walk; 2y-normal speech; hypotonia, attention deficit/hyperactivity disorder, sleep problems; MRI brain normal; no dysmorphic features; scoliosis (19 degrees); failure to thrive, G-tube, constipation; mild IgA deficiency; easy fatigability, inguinal hernia, carnitine deficiency 1 1 Johan den Dunnen
00464043 Pat5 PubMed: Okur 2016 - F - United States - - - - - NDD see paper; ..., birth weight 3345 g (25-50%); 2y-OFC 44.5 cm (<3%); developmental delay; 8m-sit; 20m-walk; 1y-speech 2 words; hypotonia, seizures or severe breath holding spell, EEG normal; MRI brain normal; extra fold in helix, inverted epicanthal folds, broad great toes; loose joints; constipation/diarrhea, delayed and disorganized oral preparatory skills, delayed swallow initiation; frequent upper respiratory infections, low IgG; short stature; mild iris coloboma vs. anisocoria; blue sclera; hyperpigmented plagues on posterior scalp 1 1 Johan den Dunnen
00464044 Pat1 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Hong Kong - - - - - NDD see paper; ..., dysmorphism, developmental delay, multisystem involvement; mild developmental language delay, hyperlaxity joints, dysmorphic facial features, low set hairline, widow’s peak, thick eyebrows, unilateral partial ptosis, thick lips, wide opened mouth, relatively thick fingers 1 1 Johan den Dunnen
00464045 Pat2 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD see paper; ..., dysmorphism, developmental delay, multisystem involvement; microcephaly, unilateral partial ptosis, dysmorphic facial features, straight horizontal eyebrows, broad nasal bridge 1 1 Johan den Dunnen
00464046 Pat3 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD see paper; ..., dysmorphism, developmental delay, multisystem involvement; intellectual disability, autism spectrum disorder, hypotonia, dyspraxia 1 1 Johan den Dunnen
00464047 Pat4 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD see paper; ..., dysmorphism, developmental delay, multisystem involvement; stereotypic movements hands/feet, dysmorphic facial features, plagiocephaly, flat face, almond-shaped eyes, deep nasal bridge, retrognathia, low set ears 1 1 Johan den Dunnen
00464048 Pat5 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., dysmorphism, developmental delay, multisystem involvement; global developmental delay, language delay 1 1 Johan den Dunnen
00464049 Pat6 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes France Tunisia - - - - NDD see paper; ..., dysmorphism, multisystem involvement; multiple congenital anomaly, global developmental delay 1 1 Johan den Dunnen
00464050 Pat7 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., dysmorphism, multisystem involvement; mild developmental language delay, bilateral epicanthus, small mouth, thin upper lip, large central upper incisors 1 1 Johan den Dunnen
00464051 Pat8 PubMed: Chiu 2018 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., failure to thrive, developmental delay, dysmorphism, prominent forehead, arched eyebrows, downslanting palpebral fissures, almond-shaped eyes, low set ears, retronagthia, high-arched palate, bilateral single palmer crease, bilateral 5th finger clinodactyly, bilateral hypoplasia 5th toe nails 1 1 Johan den Dunnen
00464052 patient PubMed: Trinh 2017 2-generation family, 1 affected, unaffected non carrier parents M - Germany - - - - - NDD see paper; ..., 35w+5 birth weight 3220 g (+1.4 SD), length 50.0 cm (+0.8 SD), 32.0 cm (-0.7 SD); 14d-nasogastric tube; 2y-microcephaly, OFC -2.8 SD; delayed motor development, 22m-walk; delayed speech development 1 1 Johan den Dunnen
00464053 Pat1 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.27 (SD-2.1); 5.6y-weight 16.2kg (SD-2.0), height 105.8cm (SD-1.9), OFC 49.5cm (SD-1.5); 6m-sit; 22m-walk; 12m-first words, 24m-lost speech; no behavioral issues; no neonatal hypotonia; swallowing difficulties; no seizures; ECG not tolerated; MRI brain normal; asthma, flexion deformity right 2nd-3rd fingers, umbilical hernia, pes planus, gastro-esophageal reflux disease 1 1 Johan den Dunnen
00464054 Pat2 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.88 (SD-1.9); 11.1y-weight 17.6kg (SD-4.7), height 111cm (SD-5.1), OFC 51.5cm (SD-0.9); 7m-sit; 24m-walk; 36m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; Tetralogy of Fallot; 8m-severe infantile scoliosis 1 1 Johan den Dunnen
00464055 Pat3 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 3.69 (SD-0.8); 9.3y-weight 38.8kg (SD1.4), height 124.5cm (SD-1.7), OFC 56.0cm (SD2.50); 30m-walk; 60m-first words; challenging behaviors, autistic traits, anxiety; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; hypermobile joints, painful leg cramps 1 1 Johan den Dunnen
00464056 Pat4 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 1.84 (SD-0.5); 2.1y-weight 13.3kg (SD-0.6), height 89.6cm (SD-1.4), OFC 48.0cm (SD-0.9); 18m-sit; 30m-walk; 18m-first words; autistic traits, mannerisms and obsessions, anxiety; neonatal hypotonia; swallowing difficulties; no seizures; no cardiac anomalies 1 1 Johan den Dunnen
00464057 Pat5 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 3.57 (SD+1.0); 5.5y-weight 19kg (SD0.0), height 108cm (SD-0.6), OFC 48.3cm (SD-1.9); 12m-sit; 18m-walk; 36m-first words; passive, easily frustrated; neonatal hypotonia; swallowing difficulties, slow eate, chokes easily; no seizures; large atrial septal defect; tongue tie 1 1 Johan den Dunnen
00464058 Pat6 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.78 (SD+0.4); 3.3y-weight 12.1kg (SD-1.6), height 85cm (SD-2.8), OFC 46.5cm (SD-1.5); 6m-sit; 24m-walk; 48m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; absent left sided ear canal 1 1 Johan den Dunnen
00464059 Pat7 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 3.81 (SD+0.8); 5.8y-weight 16.2kg (SD-1.5), height 102.7cm (SD-2.1), OFC 50.0cm (SD-0.5); 15m-sit; 49m-walk; 48m-first words; autistic traits, repetitive behaviors, verbal ticks, motor ticks; neonatal hypotonia; no swallowing difficulties; three febrile seizures; no cardiac anomalies; MRI brain normal; post-axial polydactyly 1 1 Johan den Dunnen
00464060 Pat8 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 3.02 (SD-0.8); 7.7y-weight 21.8kg (SD-0.2), height 113.4cm (SD-1.3), OFC 49.2cm (SD-1.9); 6m-sit; 40m-walk; 96m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; eczema 1 1 Johan den Dunnen
00464061 Pat9 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.92 (SD-1.0); 7.3y-weight 17.6kg (SD-2.5), height 110cm (SD-2.5), OFC 50.5cm (SD-1.2); 11m-sit; 24m-walk; no behavioral issues; neonatal hypotonia; no swallowing difficulties; possible absence seizures; no cardiac anomalies; mild cutaneous syndactyly digits 1-4 in hands 1 1 Johan den Dunnen
00464062 Pat10 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.80 (SD-1.3); 10.0y-weight 24.8kg (SD-1.7), height 129cm (SD-1.4), OFC 49.5cm (SD-2.1); 24m-sit; 48m-walk; 72m-first words; no behavioral issues; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain delayed myelination; duplex right renal collecting system 1 1 Johan den Dunnen
00464063 Pat11 PubMed: Owen 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NDD see paper; ..., birth weight 2.70 (SD-0.7); 5.3y-weight 15.3kg (SD-1.6), height 100.3cm (SD-2.2), OFC 49.4cm (SD-1.1); 10m-sit; 27m-walk; 14m-first words; autistic traits, self-injurious (biting), tantrums; neonatal hypotonia; no swallowing difficulties; no seizures; atrial septal defect; pes planus 1 1 Johan den Dunnen
00464073 patient PubMed: Akahira-Azuma 2018 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - OCNDS see paper; ..., 40w+6 birth, birth weight 2740 g, length 47.5 cm, OFC 33.0 cm; delayed developmental milestones, 4m-head control, 12m-sit; 1y4m-hypotonia, decreased muscle bulk, non-verbal, MRI brain reduced anterior pituitary gland/delayed myelination; 2y-10m-distinct facial features, synophrys, hypertrichosis, down-slanting palpebral fissures, bulbous nose; severe growth retardation, relative macrocephaly, friendly, hyperactive behavior, intellectual disability 1 1 Johan den Dunnen
00464617 321367 - - M no Germany - - - - - OCNDS EEG abnormality, Neurodevelopmental delay, Poor or absent speech 1 1 Andreas Laner
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