All individuals with variants in gene ATP2B1

18 entries on 1 page. Showing entries 1 - 18.
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     
00408483 Pat1 PubMed: Rahimi 2025, PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - NDD see paper; ..., development delay; moderate intellectual disability; normal behavior; seizures; secundum atrial septal defect, toe clindactyly, facial dysmorphism, hypotonia 1 1 Johan den Dunnen
00408484 Pat2 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; transposition of large vessels, low set ears 1 1 Johan den Dunnen
00408485 Pat3 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - NDD see paper; ..., development delay; mild intellectual disability; EEG pathological; cerebral cavernous malformation, sparse hair 1 1 Johan den Dunnen
00408486 Pat4 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - NDD see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; seizures; marfanoid habitus, arachnodactyly, scoliosis, hypermobile thumb 1 1 Johan den Dunnen
00408487 Pat5 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; facial dysmorphism 1 1 Johan den Dunnen
00408488 Pat6 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., development delay; intellectual disability; sleeping difficulties; seizures; facial dysmorphism, hypotonia 1 1 Johan den Dunnen
00408489 Pat7 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD see paper; ..., development delay; moderate intellectual disability; compulsive behavior; seizures 1 1 Johan den Dunnen
00408490 Pat8;Fam3PatII2 PubMed: Rahimi 2022, PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France Morocco - - - - NDD see paper; ..., no prenatal issues, birth 39w, SVD, weight 3100 g (18%), height 47 cm (6%), OFC 33 cm (5%); 12m-sit; >26m-walk; 26m-single words; global developmental delay; no hypotelorism, no hypertelorism; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; 1st fingers shortening, hypertrichosis, premature thelarche, low hairline, bilateral epicanthus, long eyelashes, bulbous nose, hat-shaped mouth, ogival palate, short neck, low implanted thumbs, deep palmar crease, clinodactyly of 5th fingers, overlapping of the toes, hirsutism on the back, limbs, and toes; intellectual disability; hypotonia; hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; MRI brain normal; ultrasound liver dysmorphic hepatomegaly with increased elasticity measurements (mean velocity 1.3m/s), hepatic hilar lymph nodes swelling, with slight effusion recto-uterine pouch 1 1 Johan den Dunnen
00408491 Pat9 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected parents M - Israel - - - - - NDD see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; marfanoid habitus, aortic root dilation, pectus carinatum, scoliosis, arachnodactyly, facial dysmorphism 1 1 Johan den Dunnen
00408492 Pat10 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., development delay; mild intellectual disability; hyperactivity; no seizures; facial dysmorphism 1 1 Johan den Dunnen
00408493 Pat11 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected parents F - Germany - - - - - NDD see paper; ..., development delay; moderate intellectual disability; no seizures; short stature 1 1 Johan den Dunnen
00408494 Pat12 PubMed: Rahimi 2022 2-generation family, 1 affected, unaffected parents M - United States - - - - - NDD see paper; ..., development delay; intellectual disability; autism spectrum disorder; infantile spasms; short stature, pectus excavatum, plagiocephaly 1 1 Johan den Dunnen
00408495 DDD13k.04028 PubMed: Kaplanis 2020 - - - - - - - - - NDD abnormality of blood and blood-forming tissues (HP:0001871), abnormality of head or neck (HP:0000152), abnormality of limbs (HP:0040064), abnormality of the eye (HP:0000478), abnormality of the genitourinary system (HP:0000119), abnormality of the integument (HP:0001574), abnormality of the nervous system (HP:0000707), abnormality of the skeletal system (HP:0000924) 1 1 Johan den Dunnen
00408496 DDD13k.05076 PubMed: Kaplanis 2020 - - - - - - - - - NDD abnormality of head or neck (HP:0000152), abnormality of the nervous system (HP:0000707), abnormality of the skeletal system (HP:0000924), abnormality of the voice (HP:0001608) 1 1 Johan den Dunnen
00408497 DDD13k.08944 PubMed: Kaplanis 2020 - - - - - - - - - NDD neurodevelopmental delay 1 1 Johan den Dunnen
00408498 Pat16 PubMed: Rahimi 2022 - M - United States Europe-W - - - - NDD see paper; ..., speech delay, 36m first words; motor developmental delay; 24m-walking; autism/autism-like behavior; sleep apnea; seizures, generalized epilepsy, generalized tonic seizures with etiology unknown, 4m-first seizure, monitoring with EEGs, hx of Keppra; MRI cranial increased extra-axial fluid, 2y later MRI interpreted as normal; overlapping toes, cleft lip and palate, poor intestinal motility; triangular facies, normal hair, symmetric, large skull, slight ptosis, normal lashes, inferior inner epicanthal folds, downslanting palpebral fissures, prominent forehead, macrocephaly 1 1 Johan den Dunnen
00459435 - - - F - - (not applicable) white - - - - NDD HP:0002342, HP:0000717, HP:0002376 1 1 Marketa Wayhelova
00466404 342568 - - M no Germany - - - - - MR;ID Delayed speech and language development, Neurodevelopmental delay, Atypical behavior, Preauricular skin tag, Restlessness, Short attention span, Sensory seeking 1 1 Andreas Laner
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.