Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

van der Donk, Roos

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 08 2019 - 1719-1725 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1530-0366

10.1038/s41436-018-0404-y doi


Abnormalities, Multiple--diagnosis
Adolescent
Adult
Algorithms
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Craniofacial Abnormalities--diagnosis
Facial Recognition
Female
Genomics
Humans
Image Processing, Computer-Assisted
Infant
Intellectual Disability--diagnosis
Intracellular Signaling Peptides and Proteins--genetics
Male
Middle Aged
Muscular Atrophy--diagnosis
Musculoskeletal Abnormalities--diagnosis
Mutation, Missense--genetics
Neurodevelopmental Disorders--diagnosis
Phenotype
Protein Phosphatase 2C--genetics
Vesicular Transport Proteins--genetics
Young Adult