All individuals with variants in gene NALCN

25 entries on 1 page. Showing entries 1 - 25.
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     
00050347 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050348 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050367 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? apneic episodes in infancy, tachypnea episodic, muscular hypotonia, recurrent viral infections, motor delay, strabismus, constipation 2 2 Johan den Dunnen
00050401 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? myopathic facies, generalized seizures, recurrent hand flapping 2 2 Johan den Dunnen
00050402 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? thoracic scoliosis, myopathic facies, recurrent hand flapping, generalized seizures 2 2 Johan den Dunnen
00080952 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - IHPRF1 Hypotonia, infantile, with psychomotor retardation and characteristic facies (OMIM:615419) 1 1 Daniel Trujillano
00103881 28327206-PatBH5908_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? developmental delay, intellectual disability, speech delay, seizures, generalized weakness 1 1 Johan den Dunnen
00103882 28327206-PatBH6816_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? developmental delay, brain malformation, hypotonia, dysmorphic features, CHD, distal arthrogryposis, concern for seizures 1 1 Johan den Dunnen
00163650 - - Fetus, TOP 24th GW F no Germany - - - yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 3 1 Florian Erger
00174398 - - - M - (Germany) - - - - - ? Short stature (HP:0004322); Global developmental delay (HP:0001263); Congenital contracture (HP:0002803); Abnormality of the face (HP:0000271) 1 1 IMGAG
00290830 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 221 Mohammed Faruq
00290831 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 24 Mohammed Faruq
00302961 Pat6 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile 2 1 Johan den Dunnen
00304391 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00307212 D16-1913 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; hand clenching 1 1 Gianina Ravenscroft
00307230 D18-0198 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - ? distal arthrogryposis 1 1 Gianina Ravenscroft
00380803 ? PubMed: Nair 2018 - ? - Lebanon - - - - - IHPRF1 DD; ID; hypotonia, regression; dysmorphic facial features (Neurological) 1 1 LOVD
00385454 13006157 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00391857 228P - - F no Spain - - - - - CLIFAHDD, IHPRF1 - 1 1 Alejandro Brea-Fernández
00408029 IHPRF1_F1 - Family with affected male child M ? Egypt - - - - - IHPRF1 - 1 2 Alaaeldin Fayez
00408052 father - father affected child - - Egypt - - - - - Healthy/Control - 2 1 Alaaeldin Fayez
00428225 DECIPHER-388888/Fam6PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected M - Germany - - - - - ? polyhydramnios, insulin-dependent diabetes mellitus; congenital contractures limbs/face, hypotonia, developmental delay; bilateral adducted thumbs, contracted third fingers (improved with age); round face, mild hypertelorism, short palpebral fissures, microstomia; severe global developmental delay; 3y8m-no unsupported sitting, crawling, standing or walking, no speech, reduced comprehension; oromandibular dystonia; birth 39w+2, Apgar 9/9/9 but problems with respiratory adaptation (tachydyspnoeia, inspiratory stridor); laryngomalacia as newborn, 2 times laser treatment; now all measurements low, especially short stature; 3y8m-weight −2.3 SD, length −3.9 SD, OFC −2.5 SD 1 1 Johan den Dunnen
00433661 - - - - - - - - - - - IHPRF1 severe intellectual disability, developmental delay 2 1 Marketa Wayhelova
00438587 HSC0036 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00452780 - - - F no Italy - - - - - CLIFAHDD inability to walk on toes, on heels, or in tandem; moderate limb dysmetria; adiadochokinesia; mild upward ophthalmospasms; oculomotor apraxia; slurred speech; facial grimaces; inappropriate laughing; moderate cognitive difficulty in several domains. Brain magnetic resonance imaging showed cerebellar atrophy, particularly of vermis and inferior lobe, and asymmetry in the occipital bones. 1 158 Domenico Coviello
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.