Disease #00821 (MRXSH (mental retardation, X-linked, syndromic, Hedera type (MRXSH)), OMIM:300423)

Official abbreviation MRXSH
Name mental retardation, X-linked, syndromic, Hedera type (MRXSH)
OMIM ID 300423
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATP6AP2
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Disease features -
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Individuals

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00132794 15746149-FamK8355 PubMed: Ramser 2005 3-generation family, 7 affected males M no - - - 0 - - MRXSH see paper; ..., X-linked mental retardation, epilepsy ATP6AP2 ATP6AP2 1 7 Johan den Dunnen
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