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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301039
http://purl.bioontology.org/ontology/OMIM/301039
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE |
| Synonyms |
MRXSHD
MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRXSHD
MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
|
| Gene Symbol |
NKAP
MRXSHD
|
| Scope Statement | De novo mutation (in some patients) [MISCELLANEOUS]
Some mutations are maternally inherited [MISCELLANEOUS]
Caused by mutation in the NFKB-activating protein gene (NKAP, 300766.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | Xq24
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 301039
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5393302
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |