All individuals with variants in gene PRKACB

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00314763 P4 Journal: Palencia-Campos 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Denmark - - - - - ? height 163 cm (-1 SD), weight 47.3 kg (-2.8 SD), OFC 51 cm (-3 SD); congenital atrioventricular septal defect, left cava superior entering coronary sinus; bilateral postaxial polydactyly hands; bilateral postaxial polydactyly feet; short and broad hands/feet, shortening middle and distal phalanges and toes; long trunk; narrow thorax; upper/lower limb shortening; genu valgum, surgery for coxa vara; small central maxillary incisors, conical right canine, hypodontia, invagination, agenesis, supernumerary teeth lateral mandibular incisors; nail dysplasia, especially toes, broad nails both thumbs; long face, short deep philtrum, tented upper lip; multiple frenula or abnormal gum-lip attachment, abnormal gum-lip attachment; no intellectual disability, in childhood period with mild developmental delay including mild language delay, gross motor difficulties, balance problems, concentration problems, later diagnosed with dyslexia; 18y-no neoplastic lesions 1 1 Johan den Dunnen
00314764 P5 Journal: Palencia-Campos 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - ? height 148.5 cm (-1.8 SD), weight 47 kg (-1 SD), OFC 55 cm (M); congenital single atrium, mitral anomaly; bilateral postaxial polydactyly hands; no bilateral postaxial polydactyly feet; brachydactyly, large great toe; moderate long trunk; moderate narrow thorax; no upper/lower limb shortening; genu valgum; hypodontia; no nail dysplasia; long face; multiple oral frenula at lower lip; no intellectual disability; 15y-no neoplastic lesions 1 1 Johan den Dunnen
00314765 P6 Journal: Palencia-Campos 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ? height 175 cm (0 SD), weight 53 kg (-1.5 SD), OFC 56,5 cm (+ 0.5 SD); congenital single atrium, mild mitral valve regurgitation; bilateral postaxial polydactyly hands; bilateral postaxial polydactyly feet; unilateral fifth finger clinodactyly; no long trunk; no narrow thorax; no upper/lower limb shortening; no genu valgum; no teeth abnormalities; no nail dysplasia; no facial/lip abnormalities; no multiple frenula or abnormal gum-lip attachment; mild intellectual disability, reading and writing acquired, severe anxiety; 20y-no neoplastic lesions 1 1 Johan den Dunnen
00314766 P7 Journal: Palencia-Campos 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia - - - - - ? height 165 cm (-0.19 SD), weight 51.2 kg (-1.03 SD), OFC 56 cm (+1.18 SD); congenital single atrium, surgically corrected in infancy; atrial fibrillation in adulthood with persistent incompetence valves; unilateral postaxial polydactyly hand (R); bilateral postaxial polydactyly feet; fifth finger clinodactyly, broad toes, mild digital clubbing; no long trunk; no narrow thorax; no upper/lower limb shortening; no genu valgum, recurrent dislocated patellae; no teeth abnormalities; no nail dysplasia; broad forehead, hypertelorism, prognathism, prominent nasal tip; no multiple frenula or abnormal gum-lip attachment; severe intellectual disability with autistic features, medically refractory focal epilepsy; grade 1 borderline mucinous ovarian tumor, liver haemangioma, renal cell carcinoma; dural ectasia, osteoporosis with multiple fractures 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.