HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
TBCK-related intellectual disability syndrome: Case study of two patients.
|
27748029 |
2017 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
|
27040691 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of TBCK causes a rare recessive developmental disorder.
|
27275012 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
|
27040692 |
2016 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
|
25558065 |
2015 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TBCK influences cell proliferation, cell size and mTOR signaling pathway.
|
23977024 |
2013 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
|
18541960 |
2008 |
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|