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

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