Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618158
http://purl.bioontology.org/ontology/OMIM/618158
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY |
| Synonyms |
IDDMSSD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IDDMSSD
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
|
| Gene Symbol |
IDDMSSD
PAK1
|
| Scope Statement | Two unrelated patients have been reported (last curated October 2018) [MISCELLANEOUS]
Caused by mutation in the p21 protein-activated kinase 1 gene (PAK1, 602590.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 11q13-q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618158
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748428
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |