Phelan-McDermid Syndrome
| Disease Aliases (16) | 22q13 deletion syndrome 22q13 deletion 22q13.3 deletion syndrome 22q13.3 deletion Chromosome 22q13.3 deletion syndrome Deletion 22q13 syndrome Deletion 22q13.3 syndrome Monosomy 22q13 Monosomy 22q13.3 Phelan-mcdermid syndrome; phmds Phmds Phelan mcdermid syndrome Telomeric 22q13 monosomy syndrome Monosomy 22q13 syndrome Monosomy type 22q13 |
Associated Genes (1) NCBI-RefSeq: SHANK3 (SH3 and multiple ankyrin repeat domains 3) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Phelan-McDermid syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |