Disease: Renpenning Syndrome 1

Name
Renpenning Syndrome 1
Synonmys
GOLABI-ITO-HALL SYNDROME , MENTAL RETARDATION, X-LINKED 55; MRX55 , MENTAL RETARDATION, X-LINKED, RENPENNING TYPE , MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3 , MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8 , MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA , SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS
Classification
developmental, genetic, neurological
Associated Genes
PQBP1 (Withdrawn symbols: MRX2, MRX55, MRXS3, MRXS8, RENS1, SHS )
Mouse Orthologs
Pqbp1 (Withdrawn symbols: Sfc2 )
Source
OMIM:309500 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

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