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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606232
http://purl.bioontology.org/ontology/OMIM/606232
|
|---|---|
| Preferred Name | PHELAN-MCDERMID SYNDROME |
| Synonyms |
PHMDS
TELOMERIC 22q13 MONOSOMY SYNDROME
CHROMOSOME 22q13.3 DELETION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PHMDS
TELOMERIC 22q13 MONOSOMY SYNDROME
CHROMOSOME 22q13.3 DELETION SYNDROME
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|---|---|
| prefLabel | PHELAN-MCDERMID SYNDROME
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| Gene Symbol |
PROSAP2
KIAA1650
SCZD15
SHANK3
DEL22q13.3
PSAP2
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| Scope Statement | 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]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 22q13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 606232
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1853490
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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