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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615599
http://purl.bioontology.org/ontology/OMIM/615599
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 40
MRT40
NEDFCF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 40
MRT40
NEDFCF
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY
|
| Gene Symbol |
MRT40
CIF150
TAF2
TAFII150
TAF2B
|
| Scope Statement | Caused by mutation in the TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD gene (TAF2, 604912.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q24.12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615599
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3810080
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |