Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620888
http://purl.bioontology.org/ontology/OMIM/620888
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 |
| Synonyms |
NEDFET1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDFET1
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1
|
| Gene Symbol |
NEDFET1
GTPBP1
GP1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the GTP-binding protein 1 gene (GTPBP1, 602245.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 22q12-q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620888
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975340
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |