MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
Biomarker
|
disease |
MGD |
Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model.
|
29944857 |
2018 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
|
29681091 |
2018 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations.
|
26000327 |
2015 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
|
17436253 |
2007 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Intellectual Disability
|
0.460 |
Biomarker
|
group |
BEFREE |
The current study redressed this by investigating brain network dynamics in a neurodevelopmental disorder of known genetic origin, by comparing individuals with a ZDHHC9-associated intellectual disability to individuals with no known impairment.
|
31639257 |
2020 |
Intellectual Disability
|
0.460 |
Biomarker
|
group |
BEFREE |
The X-Linked Intellectual Disability Gene Zdhhc9 Is Essential for Dendrite Outgrowth and Inhibitory Synapse Formation.
|
31747610 |
2019 |
Intellectual Disability
|
0.460 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
|
29681091 |
2018 |
Intellectual Disability
|
0.460 |
GeneticVariation
|
group |
BEFREE |
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
|
29681091 |
2018 |
Intellectual Disability
|
0.460 |
Biomarker
|
group |
BEFREE |
Overall, this study highlights a key role for zDHHC9 in brain development and behaviour, and supports the utility of the Zdhhc9 mutant mouse line to investigate molecular and cellular changes linked to intellectual disability and other deficits in the human population.
|
29944857 |
2018 |
Intellectual Disability
|
0.460 |
GeneticVariation
|
group |
BEFREE |
The current study investigated white matter structural connectivity in a group of individuals with intellectual disability due to mutations in ZDHHC9.
|
28168288 |
2017 |
Intellectual Disability
|
0.460 |
GeneticVariation
|
group |
BEFREE |
The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.
|
28687527 |
2017 |
Intellectual Disability
|
0.460 |
Biomarker
|
group |
HPO |
|
|
|
Epilepsy
|
0.310 |
Biomarker
|
disease |
BEFREE |
These findings present a plausible mechanism for how the loss of ZDHHC9 function may contribute to XLID and epilepsy.
|
31747610 |
2019 |
Epilepsy
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
|
29681091 |
2018 |
Lujan Fryns syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
|
23506379 |
2013 |
Lujan Fryns syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
|
17436253 |
2007 |
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
0.200 |
Biomarker
|
disease |
MGD |
Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model.
|
29944857 |
2018 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Next-generation sequencing in X-linked intellectual disability.
|
25649377 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
|
24357419 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |