Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620445
http://purl.bioontology.org/ontology/OMIM/620445
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES |
| Synonyms |
NEDMIM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDMIM
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
|
| Gene Symbol |
KIAA0406
TTI1
NEDMIM
|
| Scope Statement | Highly variable manifestations [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the TELO2-interacting protein 1 gene (TTI1, 614425.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 20q11.23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620445
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830624
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |