variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
639 Matching Annotations
- Jan 2020
-
www.sciencedirect.com www.sciencedirect.com
-
www.sciencedirect.com www.sciencedirect.com
-
axial muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
-
-
www.sciencedirect.com www.sciencedirect.com
-
Gowers’ sign
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
-
-
www.sciencedirect.com www.sciencedirect.com
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
-
Arachnodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
-
Camptodactyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
-
Joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
-
Slender limbs
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
-
Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
-
Pectus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
-
Scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
-
Tall stature
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
-
atrial septal defect
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
-
large ears
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
-
Open mouth appearance
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
-
Short philtrum
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
Long face
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
-
Hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
Developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0001290
- HP:0001166
- HP:0001533
- HP:0000098
- hpoLookup:individual
- alleleLookup:individual
- HP:0000194
- HP:0000768
- allele:CA414193321
- HP:0000276
- HP:0000767
- HP:0001388
- HP:0001631
- HP:0002650
- HP:0000400
- HP:0000322
- gene:NKAP
- alleleLookup
- monarchLookup
- HP:0001249
- HP:0001263
- individual:1
- HP:0012385
- hpoLookup
- ClinGen
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Blood
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211
-
fiber degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
-
-
www.sciencedirect.com www.sciencedirect.com
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
-
down-slanting eyelid
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
-
short proximal extremities
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
-
4
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
-
8
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
3
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
-
6
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
macrocephaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
-
7
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
-
2
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
-
5
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505
-
1
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
muscular hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
intellectual disability
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
motor development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
speech and language development
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
-
developmental delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
Tags
- HP:0007018
- HP:0000540
- individual:7
- HP:0005280
- HP:0002705
- HP:0002003
- individual:3
- HP:0001763
- individual:6
- HP:0000322
- HP:0001270
- allele:CA398915284
- HP:0001249
- HP:0000369
- HP:0001263
- HP:0001252
- HP:0000175
- HP:0000325
- allele:CA399185143
- HP:0001942
- ClinGen
- hpoLookup
- HP:0200006
- allele:CA399193661
- HP:0001947
- individual:4
- individual:8
- HP:0000256
- hpoLookup:individual
- alleleLookup:individual
- HP:0001382
- HP:0001265
- HP:0000750
- allele:CA399189115
- individual:2
- HP:0000316
- HP:0000736
- allele:CA399196709
- HP:0000505
- HP:0009815
- HP:0001250
- HP:0000348
- alleleLookup
- monarchLookup
- gene:TAOK1
- HP:0000717
- HP:0002415
- individual:1
- HP:0000407
- individual:5
- HP:0000639
Annotators
URL
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
-
-
www.sciencedirect.com www.sciencedirect.com
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/
-
allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224
-
primary infertility
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
-
- Dec 2019
-
www.sciencedirect.com www.sciencedirect.com
-
General hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
General hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
-
-
www.sciencedirect.com www.sciencedirect.com
-
acute respiratory failure
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093
-
54.0 cm (99th percentile)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517
-
2 cm (in acute setting)
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744
-
hyperechoic cortex of both kidneys
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719
-
aortic insufficiency
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
-
Platyspondyly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
-
+
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
-
<3rd percentile
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/
-
Splenomegaly
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268
-
<3rd percentile
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
-
elevated methionine
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235
-
talipes equinovarus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
-
Neonatal jaundice
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579
Tags
- HP:0001397
- variant:599396
- HP:0003235
- hpoLookup:individual
- variant:547946
- variantLookup:individual
- variant:692227
- HP:0006579
- HP:0000926
- HP:0003170
- variant:692228
- individual:3
- HP:0004322
- HP:0001762
- individual:2
- HP:0002093
- HP:0004719
- HP:0006268
- monarchLookup
- HP:0001659
- variantLookup
- HP:0001744
- individual:1
- HP:0001395
- gene:RINT1
- variant:547947
- hpoLookup
- ClinGen
- HP:0003517
Annotators
URL
-
-
www.sciencedirect.com www.sciencedirect.com
-
failure to thrive
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508
-
hyperkinetic
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487
-
nystagmus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
-
right esotropia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565
-
cortical edema
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181
-
downward gaze deviation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330
-
tongue thrusting
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703
-
axial hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
-
appendicular spasticity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257
-
could not verbalize
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300
-
lost voluntary mobility
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470
-
bilateral nonsynchronous spikes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353
-
short non-provoked generalized tonic-clonic seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069
-
intractable epilepsy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
ataxia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251
Tags
- individual:4
- hpoLookup:individual
- HP:0003470
- HP:0100703
- HP:0001257
- HP:0000565
- individual:3
- HP:0002487
- individual:2
- gene:NUP214
- HP:0008936
- HP:0002069
- HP:0001250
- HP:0001508
- monarchLookup
- HP:0002181
- HP:0002353
- HP:0025330
- individual:1
- HP:0001251
- hpoLookup
- ClinGen
- HP:0002300
- HP:0000639
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
atrophy
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202
-
progressive muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323
-
-
www.sciencedirect.com www.sciencedirect.com
-
Small head circumference
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
-
Speech delay
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
-
ID
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
-
- Nov 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
hypertrophy of slow fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
-
fibre degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
-
interstitial fibrosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206
-
hypertrophy of Type 1 (slow) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
-
nemaline rods
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798
-
selective and marked atrophy of Type 2 (fast) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
-
nasogastric tube feedin
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288
-
bulbar weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283
-
non-invasive ventilation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
-
respiratory muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747
-
thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
-
thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
-
bilateral hip dislocation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780
-
finger contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879
-
knee contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380
-
high arched palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
-
hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
-
limb muscles
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028
-
weakness of facial
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319
-
rocker-bottom
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838
-
bilateral talipes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776
-
overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557
-
overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845
-
polyhydramnios
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561
Tags
- HP:0006380
- HP:0000218
- HP:0040288
- hpoLookup:individual
- HP:0003554
- HP:0010557
- HP:0008780
- HP:0003798
- gene:TNNT3
- HP:0001561
- HP:0002747
- HP:0009028
- HP:0002206
- HP:0001283
- HP%3A0100293
- monarchLookup
- HP:0100295
- HP:0002943
- HP:0001838
- HP:0001776
- HP:0001845
- HP:0001252
- HP:0030319
- individual:1
- HP%3A0004887
- hpoLookup
- ClinGen
- HP:0005879
Annotators
URL
-
- Oct 2019
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
aminoaciduria
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355
-
aspartate level
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899
-
obsessive-compulsive trait
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770
-
kidney stones
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
-
-
reg.clinicalgenome.org reg.clinicalgenome.org
-
allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646
-
- Sep 2019
-
rupress-org.ezproxy.rice.edu rupress-org.ezproxy.rice.edu
-
if n is very small (for example n = 3), rather than showing error bars and statistics, it is better to simply plot the individual data points.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
allele id lookup result
-
Seizures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
-
22 mo
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936
-
variant id lookup result
-
constipation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002019
-
hairy elbows
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004780
-
strabismus
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000486
-
joint laxity
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
-
fetal fingerpads
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001212
-
-
reader.elsevier.com reader.elsevier.com
-
I 1
CaseI1-2: Case I1 is the asymptomatic paternal grandfather of proband 2 in family 2. The heterozygous Thr295Ile substitution was found in this individual.
CasePresentingHPOs: HP:0005543, (Reduced protein C activity)
HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 39%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This individual was asymptomatic.
CasePMIDs:
-
grandmother (I3) of Proband 2
CaseI3-2: Case I3 is the asymptomatic grandmother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.
CasePresentingHPOs: HP:0005543, (Reduced protein C activity)
HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 48%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=36%).
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This individual was asymptomatic.
CasePMIDs:
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asymptomaticmother (II4
CaseII4-2: Case II4 is the asymptomatic mother of proband 2 in family 2. The heterozygous Leu-34Pro substitution was found in this individual.
CasePresentingHPOs: HP:0005543, (Reduced protein C activity)
HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 55%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This individual was asymptomatic.
CasePMIDs:
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paternal relatives II2
CaseII2-2: Case II2 is the asymptomatic paternal uncle of proband 2 in family 2. The Thr295Ile substitution was found in this individual.
CasePresentingHPOs: HP:0005543, (Reduced protein C activity)
HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 44%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=33%).
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This individual was completely asymptomatic.
CasePMIDs:
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he asymptomatic fatherof Proband 2 (II3)
CaseII3-2: Case II3 is the clinically asymptomatic father of proband 2 in family 2. The Thr295Ile substitution was found in this individual.
CasePresentingHPOs: HP:0005543, (Reduced protein C activity)
HPOsFreeText: Protein C activity was reduced: Normal range = 70-140% (actual = 43%). Patient also had reduced protein C antigen: Normal range = 70-130% (Actual=34%).
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This individual was completely asymptomatic.
CasePMIDs:
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Proband 2
CaseIII1-2: Proband 2 (Case III 1 family 2) was a 19 year old male diagnosed with deep vein thrombosis in both legs since the age of 16. The family of this individual was asymptomatic with respect to thrombolytic disease and was non-consanguineous.
CasePresentingHPOs: HP:0002625, HP:0005543, HP:0004936, (Deep venous thrombosis), (Protein C deficiency), (Venous thrombosis),
HPOsFreeText: Deep vein thrombosis was in both legs since age of 16. This patient also had low protein C antigen.
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: This Case (Case III1-2) was designated as Proband 2.
CasePMIDs:
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the father (I1) of Proband 1
CaseI1-1: Case I1-1 is a 54 year-old male from Family 1. This individual has a heterozygous Asp255His mutation and is the father of the proband (II1-1). This individual was asymptomatic and lab results were within normal ranges.
CasePresentingHPOs:
HPOsFreeText:
CaseNotHPOs:
NotHPOsFreeText: Patient was completely asymptomatic.
CaseAddInfo:
CasePMIDs:
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