Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Disease #06996 (NDD-NAE1 (NDD-NAE1)) Official abbreviation NDD-NAE1 Name NDD-NAE1 OMIM ID - Inheritance Autosomal recessive Individuals reported having this disease - Phenotype entries for this disease - Associated with 1 gene NAE1 Associated tissues - Disease features short stature; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; mental decline; learning disabilities; MRI global brain atrophy; muscle weakness; dysgenesis hippocampus Remarks - Date created 2023-01-10 16:05:28 +01:00 (CET) Date last edited N/A

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