Neurodevelopmental Disorder with Language Impairment, Autism, and Attention Deficit-Hyperactivity Disorder

Preferred Label : Neurodevelopmental Disorder with Language Impairment, Autism, and Attention Deficit-Hyperactivity Disorder;

NCIt synonyms : NEDLAAD;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CAPRIN1 gene, encoding caprin-1. It is characterized by speech and motor delays, language difficulties, behavioral abnormalities, variably impaired intellectual development, mild ocular and distal skeletal anomalies, and nonspecific dysmorphic features.;

Details

Origin ID

C215155;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CAPRIN1 Gene [NCIt concept]

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