×
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
Muscle hypotonia
0.400
Biomarker
GENOMICS_ENGLAND
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
30224647 2018
×
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
Muscle hypotonia
0.400
Biomarker
GENOMICS_ENGLAND
Small 4p16.3 deletions: Three additional patients and review of the literature.
30244530 2018
×
Entrez Id: 1644
Gene Symbol: DDC
DDC
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.
19172410 2009
RALGAPA1
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1 ) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia , feeding abnormalities, recurrent fever episodes, and infantile spasms .
32004447 2020
×
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
31092906 2019
×
Entrez Id: 4047
Gene Symbol: LSS
LSS
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Congenital cataract with LSS gene mutations: a new case report.
29016354 2017
×
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death.
17544522 2007
×
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
25078763 2014
×
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.
30059600 2018
×
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Molecular autopsy in maternal-fetal medicine.
28749478 2018
×
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
31092906 2019
×
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
30595372 2019
×
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
Muscle hypotonia
0.400
Biomarker
HPO
×
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Muscle hypotonia
0.400
Biomarker
HPO
×
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
Muscle hypotonia
0.400
Biomarker
HPO
×
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
Muscle hypotonia
0.110
Biomarker
HPO
×
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
Muscle hypotonia
0.110
Biomarker
HPO
×
Entrez Id: 5250
Gene Symbol: SLC25A3
SLC25A3
Muscle hypotonia
0.110
Biomarker
HPO
×
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
Muscle hypotonia
0.110
Biomarker
HPO
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Muscle hypotonia
0.110
Biomarker
HPO
×
Entrez Id: 9702
Gene Symbol: CEP57
CEP57
Muscle hypotonia
0.100
Biomarker
HPO
×
Entrez Id: 23189
Gene Symbol: KANK1
KANK1
Muscle hypotonia
0.100
Biomarker
HPO
×
Entrez Id: 650
Gene Symbol: BMP2
BMP2
Muscle hypotonia
0.100
Biomarker
HPO
×
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
Muscle hypotonia
0.100
Biomarker
HPO
×
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
Muscle hypotonia
0.100
Biomarker
HPO