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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620250
http://purl.bioontology.org/ontology/OMIM/620250
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM |
| Synonyms |
NEDSSCC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDSSCC
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
|
| Gene Symbol |
HECTD4
C12orf51
NEDSSCC
|
| Scope Statement | Caused by mutation in the HECT domain E3 ubiquitin protein ligase 4 gene (HECTD4, 620209.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12q24.13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620250
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830296
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |