×
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
Generalized hypotonia
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
30032983 2018
×
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
Generalized hypotonia
0.400
Biomarker
GENOMICS_ENGLAND
Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia .
30503518 2018
×
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
Generalized hypotonia
0.400
Biomarker
HPO
×
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
Generalized hypotonia
0.400
Biomarker
HPO
×
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
31139695 2019
×
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
30929742 2019
×
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia , epilepsy, developmental delay, digit abnormalities) to classify the condition.
30827498 2019
×
Entrez Id: 1656
Gene Symbol: DDX6
DDX6
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
31422817 2019
×
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
31104773 2019
×
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
31256876 2019
×
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.
31353023 2019
×
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
30905399 2019
×
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
31278393 2019
×
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Here, we report on five individuals with mutations in SMARCD1 ; the individuals present with developmental delay, intellectual disability, hypotonia , feeding difficulties, and small hands and feet.
30879640 2019
×
Entrez Id: 26523
Gene Symbol: AGO1
AGO1
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
29346770 2018
×
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.
29156220 2017
×
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
24550763 2014
×
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
Generalized hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
23524343 2013
×
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
Generalized hypotonia
0.100
CausalMutation
CLINVAR
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
29478781 2018
×
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
Generalized hypotonia
0.100
CausalMutation
CLINVAR
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
29663667 2018
×
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Generalized hypotonia
0.100
CausalMutation
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822 2018
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Generalized hypotonia
0.100
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671 2017
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Generalized hypotonia
0.100
GeneticVariation
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898 2017
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Generalized hypotonia
0.100
CausalMutation
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966 2017
×
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
Generalized hypotonia
0.100
GeneticVariation
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699 2017