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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618608
http://purl.bioontology.org/ontology/OMIM/618608
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES |
| Synonyms |
CHROMOSOME 12q15 DELETION SYNDROME
IDNADFS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHROMOSOME 12q15 DELETION SYNDROME
IDNADFS
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
|
| Gene Symbol |
IDNADFS
NOT2
CNOT2
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the CCR4-NOT transcription complex, subunit 2 gene (CNOT2, 604909.0001) [MOLECULAR BASIS]
De novo mutation or deletion [MISCELLANEOUS]
Variable features [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q15
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618608
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5231426
C5231501
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |