All individuals with variants in gene CDK19

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
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VIP     
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00301126 Proband 1 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents F no United States white >25y - - Sdioum valproate, topiramate, and lamotrigine ID born at term; global developmental delay (HP:0001263); epilepsy (HP:0012847); hypotonia (HP:0001290); intellectual disability (HP:0001249); dysmorphic face(HP:0001999); scoliosis (HP:0002650); borderline microcephaly (HP:0000252); autism (HP:0000717), ataxia, short stature (HP:0004322); wide mouth (HP:0000154), widely spaced teeth (HP:0000687) 1 1 Joaquin De La Torre Vela
00301155 Proband 2 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents M no China Asian >02y - - antiepileptic drugs, including sodium valproate and topiramate, failed to con- trol the seizures. ID born at 38w; global developmental delay (HP:0001263), able to lift his head (barely), unable to track objects, roll, sit, crawl, does not babble; epilepsy (HP:0012847), 7m-infantile spasms (0012469); hypotonia (HP:0001290); dysmorphic face (HP:0001999), hypotelorism (HP:0000601), prominent nose (HP:0000448), bulbous tip (HP:0005274), large mouth, (HP:0000154), widely spaced teeth (HP:0000687); no scoliosis (-HP:0002650); MRI brain mild atrophy (HP:0012444); 10w-episodes of cyanosis (HP:0000961); 6m-generalized tonic-clonic seizures (HP:0025190); EEG hypsarrhythmia with burst suppression; height 86 cm (28th), weight 11.5 kg (32th), head circumference 47.5 cm (29th); global developmental delay (HP:0001263) 1 1 Joaquin De La Torre Vela
00301163 Proband3 PubMed: Chung 2020, Journal: Chung 2020 2-generation family, 1 affected, unaffected non-carrier parents F no China Asian >01y - - various antiepileptic drugs ID born at 39w; global developmental delay (HP:0001263), 6m-not able to hold head, 12m-sit,18m-not able to crawl; epilepsy (HP:0012847), infantile spasms (0012469), 9m-daily atonic seizures; EEG hypsarrhythmia (HP:0002521); hypotonia (HP:0001290); dysmorphic face (HP:0001999), ocular hypertelorism (HP:0000316), prominent nose (HP:0000448), bulbous tip (HP:0005274), highly arched palate (HP:0000218), U-shape vermillion upper lip (HP:0011339), large mouth, (HP:0000154), widely spaced teeth (HP:0000687), arched upper lip (HP:0000177); no scoliosis (-HP:0002650); MRI brain delayed myelination; small calculus at both kidneys; single transverse palmar crease right hand (HP:0000954); height 90 cm (99.8th), weight 15.5 kg (99.9th), head circumference 48 cm (67.9th); no abnormalities at birth; global developmental delay (HP:0001263) 1 1 Joaquin De La Torre Vela
00391787 147P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00408804 JS_F8-1 PubMed: Alazami 2012 - M yes - - - - - - JBTS prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find 1 1 LOVD
00408805 JS_F8-2 PubMed: Alazami 2012 - F yes - - - - - - JBTS prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find 1 1 LOVD
00408806 JS_F9 PubMed: Alazami 2012 - M yes - - - - - - JBTS prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele–; abnormal electroretino 1 1 LOVD
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