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(Withdrawn symbols: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(Withdrawn symbols: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)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)