PHELAN-MCDERMID SYNDROME

PHMDS

http://purl.bioontology.org/ontology/OMIM/606232

PHMDS

TELOMERIC 22q13 MONOSOMY SYNDROME

CHROMOSOME 22q13.3 DELETION SYNDROME

C1853490

22q13.3

PROSAP2

KIAA1650

SCZD15

SHANK3

DEL22q13.3

PSAP2

http://purl.bioontology.org/ontology/OMIM/MTHU004663

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU033531

http://purl.bioontology.org/ontology/OMIM/MTHU000248

http://purl.bioontology.org/ontology/OMIM/MTHU033532

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU007935

http://purl.bioontology.org/ontology/OMIM/MTHU033530

http://purl.bioontology.org/ontology/OMIM/MTHU033521

http://purl.bioontology.org/ontology/OMIM/MTHU008495

http://purl.bioontology.org/ontology/OMIM/MTHU033527

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU033526

http://purl.bioontology.org/ontology/OMIM/MTHU003760

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU038541

http://purl.bioontology.org/ontology/OMIM/MTHU033525

http://purl.bioontology.org/ontology/OMIM/MTHU011667

http://purl.bioontology.org/ontology/OMIM/MTHU033522

http://purl.bioontology.org/ontology/OMIM/MTHU000577

http://purl.bioontology.org/ontology/OMIM/MTHU021458

http://purl.bioontology.org/ontology/OMIM/MTHU033523

http://purl.bioontology.org/ontology/OMIM/MTHU002674

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU033524

http://purl.bioontology.org/ontology/OMIM/MTHU022887

http://purl.bioontology.org/ontology/OMIM/MTHU007970

http://purl.bioontology.org/ontology/OMIM/MTHU033520

http://purl.bioontology.org/ontology/OMIM/MTHU033528

http://purl.bioontology.org/ontology/OMIM/MTHU015980

http://purl.bioontology.org/ontology/OMIM/MTHU006858

http://purl.bioontology.org/ontology/OMIM/MTHU033529

http://purl.bioontology.org/ontology/OMIM/MTHU006914

http://purl.bioontology.org/ontology/OMIM/MTHU033533

http://purl.bioontology.org/ontology/OMIM/MTHU033519

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000094

Phenotype description, molecular basis known.

606232

3

pound

PHELAN-MCDERMID SYNDROME

Caused by mutation in the SH3 and multiple ankyrin repeat domains 3 gene (SHANK3, 606230.0001) [MOLECULAR BASIS]

Contiguous gene syndrome caused by deletion (160kb to 9Mb) of 22q13.3 (in some patients) [MISCELLANEOUS]

Wide phenotypic variation [MISCELLANEOUS]

Some patients do not have dysmorphic features [MISCELLANEOUS]

De novo mutation [MISCELLANEOUS]

T047