Name
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Synonmys
CARPENTER-WAZIRI SYNDROME ,
CHUDLEY-LOWRY SYNDROME ,
HOLMES-GANG SYNDROME ,
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 ,
SFMS ,
SMITH-FINEMAN-MYERS SYNDROME 1; SFM1 ,
XLMR-HYPOTONIC FACIES SYNDROME
Classification
unclassified
Associated Genes
ATRX
(Withdrawn symbols:
JMS,
MRX52,
RAD54,
XH2,
XNP
)
Mouse Orthologs
Atrx
(Withdrawn symbols:
4833408C14Rik,
AI447451,
DXHXS6677E,
Hp1bp2,
Rad54,
Xnp
)
Source
OMIM:309580 (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)