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OMIM – Online Mendelian Inheritance in Man®

An Online Catalog of Human Genes and Genetic Disorders

OMIM Entry – # 606232 – PHELAN-MCDERMID SYNDROME; PHMDS

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources)

An interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.

22q13 deletion syndrome (Phelan-Mcdermid syndrome … – Decipher

MedlinePlus is a service of the National Library of Medicine (NLM), the world’s largest medical library, which is part of the National Institutes of Health (NIH).

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MedlinePlus: Genetics