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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/301076
http://purl.bioontology.org/ontology/OMIM/301076
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE |
| Synonyms |
MRXSP
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MRXSP
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE
|
| Gene Symbol |
MRXSP
GLRA2
|
| notation | 301076
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Most affected females carry de novo heterozygous missense gain-of-function variants [MISCELLANEOUS]
Caused by mutation in the glycine receptor, alpha-2 subunit gene (GLRA2, 305990.0001) [MOLECULAR BASIS]
Most affected males carry maternally inherited hemizygous loss-of-function variants [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | Xp22.1-p21.2
|
| tui | T048
|
| cui | C5676881
|
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