All individuals with variants in gene LAMA5

6 entries on 1 page. Showing entries 1 - 6.
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     
00147125 30631761-Pat35_S11 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, epilepsy, hypotonia 1 1 Joonhong Park
00316105 K144 PubMed: Heidet 2017 fetus - - France - - - - - CAKUT bilateral multicystic dysplasia; pulmonary cystic adenomatoid malformation 1 1 Johan den Dunnen
00316142 K201 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - CAKUT bilateral kidney agenesis 1 2 Johan den Dunnen
00316187 K93 PubMed: Heidet 2017 - - - France - - - - - CAKUT renal hypoplasia; renal dysplasia; intellectual disability 1 1 Johan den Dunnen
00327502 JATD76 PubMed: McInerney-Leo 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - SRTD see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive 1 1 Johan den Dunnen
00459421 Fam5PatII1 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil Minas Gerais - - - - NDD see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests 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.