|
subjectkey |
GUID |
|
Required |
The NDAR Global Unique Identifier (GUID) for research subject |
NDAR*
|
|
|
|
src_subject_id |
String |
20
|
Required |
Subject ID how it's defined in lab/project |
|
|
|
|
interview_date |
Date |
|
Required |
Date on which the interview/genetic test/sampling/imaging/biospecimen was completed. MM/DD/YYYY |
|
|
|
|
interview_age |
Integer |
|
Required |
Age in months at the time of the interview/test/sampling/imaging. |
0 :: 1260
|
Age is rounded to chronological month. If the research participant is 15-days-old at time of interview, the appropriate value would be 0 months. If the participant is 16-days-old, the value would be 1 month.
|
|
|
sex |
String |
20
|
Required |
Sex of subject at birth |
M;F; O; NR
|
M = Male; F = Female; O=Other; NR = Not reported
|
gender |
Query
|
abnormaldev |
Integer |
|
Recommended |
Had abnormal developmental in the first 6 months of life |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
angelmanlike |
Integer |
|
Recommended |
Angelman-like happy puppet excitable flapping |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
autisticbehaviors |
Integer |
|
Recommended |
Presence of autistic behaviors |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
braininjury |
Integer |
|
Recommended |
Experienced a brain injury before or after birth metabolic infection |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
breathingdisturbances |
Integer |
|
Recommended |
Breathing disturbances when awake |
0;1
|
1=Yes; 0=No
|
|
Query
|
bruxism |
Integer |
|
Recommended |
Bruxism when awake |
0;1
|
1=Yes; 0=No
|
|
|
cdkl5mutationsother |
String |
100
|
Recommended |
CDKL5 Mutations Other |
|
|
|
Query
|
cdkl5mutations_a40v |
Integer |
|
Recommended |
CDKL5Mutations: A40V |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
cdkl5mutations_other |
Integer |
|
Recommended |
CDKL5Mutations: Other |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
cdkl5mutations_q791ppol |
Integer |
|
Recommended |
CDKL5Mutations: Q791P (polymorphism) |
0; 1
|
0 = unchecked box; 1 = checked box
|
cdkl5mutations_q791ppolymorphism |
Query
|
cdkl5mutations_r59x |
Integer |
|
Recommended |
CDKL5Mutations: R59X |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
cdkl5mutations_r952xpol |
Integer |
|
Recommended |
CDKL5Mutations: R952X (polymorphism) |
0; 1
|
0 = unchecked box; 1 = checked box
|
cdkl5mutations_r952xpolymorphism |
Query
|
commecp2del_1157del41 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1157del41 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1157del41 |
Query
|
commecp2del_1157del44 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1157del44 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1157del44 |
Query
|
commecp2del_1163del26 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1163del26 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1163del26 |
Query
|
commecp2del_1163del35 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1163del35 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1163del35 |
Query
|
commecp2del_1164del44 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1164del44 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1164del44 |
Query
|
commecp2del_1168del6 |
Integer |
|
Recommended |
CommonMECP2Deletions: 1168del6 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_1168del6 |
Query
|
commecp2del_710del1 |
Integer |
|
Recommended |
CommonMECP2Deletions: 710del1 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_710del1 |
Query
|
commecp2del_806del1 |
Integer |
|
Recommended |
CommonMECP2Deletions: 806del1 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_806del1 |
Query
|
commecp2del_807del1 |
Integer |
|
Recommended |
CommonMECP2Deletions: 807del1 |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2deletions_807del1 |
Query
|
commecp2mut_c298gl100v |
Integer |
|
Recommended |
CommonMECP2Mutations: C298G(L100V) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c298gl100v |
Query
|
commecp2mut_c302gp101r |
Integer |
|
Recommended |
CommonMECP2Mutations: C302G(P101R) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c302gp101r |
Query
|
commecp2mut_c316tr106w |
Integer |
|
Recommended |
CommonMECP2Mutations: C316T(R106W) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c316tr106w |
Query
|
commecp2mut_c397tr133c |
Integer |
|
Recommended |
CommonMECP2Mutations: C397T(R133C) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c397tr133c |
Query
|
commecp2mut_c401gs134c |
Integer |
|
Recommended |
CommonMECP2Mutations: C401G(S134C) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c401gs134c |
Query
|
commecp2mut_c421gy141x |
Integer |
|
Recommended |
CommonMECP2Mutations: C421G(Y141X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c421gy141x |
Query
|
commecp2mut_c423gy141x |
Integer |
|
Recommended |
CommonMECP2Mutations: C423G(Y141X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c423gy141x |
Query
|
commecp2mut_c455gp152r |
Integer |
|
Recommended |
CommonMECP2Mutations: C455G(P152R) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c455gp152r |
Query
|
commecp2mut_c468gd156e |
Integer |
|
Recommended |
CommonMECP2Mutations: C468G(D156E) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c468gd156e |
Query
|
commecp2mut_c473tt158m |
Integer |
|
Recommended |
CommonMECP2Mutations: C473T(T158M) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c473tt158m |
Query
|
commecp2mut_c502tr168x |
Integer |
|
Recommended |
CommonMECP2Mutations: C502T(R168X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c502tr168x |
Query
|
commecp2mut_c674gp225r |
Integer |
|
Recommended |
CommonMECP2Mutations: C674G(P225R) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c674gp225r |
Query
|
commecp2mut_c763tr255x |
Integer |
|
Recommended |
CommonMECP2Mutations: C763T(R255X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c763tr255x |
Query
|
commecp2mut_c808tr270x |
Integer |
|
Recommended |
CommonMECP2Mutations: C808T(R270X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c808tr270x |
Query
|
commecp2mut_c880tr294x |
Integer |
|
Recommended |
CommonMECP2Mutations: C880T(R294X) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c880tr294x |
Query
|
commecp2mut_c916tr306c |
Integer |
|
Recommended |
CommonMECP2Mutations: C916T(R306C) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c916tr306c |
Query
|
commecp2mut_c965tp322l |
Integer |
|
Recommended |
CommonMECP2Mutations: C965T(P322L) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_c965tp322l |
Query
|
commecp2mut_g317ar106q |
Integer |
|
Recommended |
CommonMECP2Mutations: G317A(R106Q) |
0; 1
|
0 = unchecked box; 1 = checked box
|
commonmecp2mutations_g317ar106q |
Query
|
rett_dx |
Integer |
|
Recommended |
Rett related Diagnosis |
1::13
|
1=Classic Rett syndrome (4 main criteria, no core exclusion criteria); 2=Atypical/variant unspecified Rett syndrome; 3=Atypical Delayed Onset Variant Rett syndrome; 4=Atypical Preserved Speech (Zapella) Variant Rett syndrome; 5=Atypical Early Seizure (Handfeld) Variant Rett syndrome; 6=Atypical Congenital (Rolando) Variant Rett syndrome; 7=Other MECP2 mutation-positive Non-Rett (including normal phenotype); 8=MECP2 duplication; 9=FOXG1 disorder; 10==FOXG1 duplication; 11=CDKL5 disorder; 12=CDKL5 duplication; 13=Other
|
diagnosis |
Query
|
diminishedresp2pain |
Integer |
|
Recommended |
Diminished response to pain |
0;1
|
1=Yes; 0=No
|
|
Query
|
dxagedatedd |
Integer |
|
Recommended |
Rett dx Age specific date day |
|
|
|
Query
|
dxagedatemm |
Integer |
|
Recommended |
Rett dx Age specific date month |
1::12
|
1=Jan; 2=Feb; 3=Mar; 4=Apr; 5=May; 6=Jun; 7=Jul; 8=Aug; 9=Sep; 10=Oct; 11=Nov; 12=Dec
|
|
Query
|
dxagedateyy |
Integer |
|
Recommended |
Rett dx Age specific date year |
|
|
|
Query
|
dxagemonths |
Integer |
|
Recommended |
Rett dx Age months |
|
|
|
Query
|
dxagena |
Integer |
|
Recommended |
Rett dx Not applicable if this is an unaffected individual age at diagnosis |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
dxageyears |
Integer |
|
Recommended |
Rett dx Age years |
|
|
|
Query
|
aut_related |
String |
10
|
Recommended |
Is there an Autism related diagnosis |
Yes; No; Not known
|
|
dxautism |
Query
|
dxdatedd |
Integer |
|
Recommended |
Diagnosis of autism day |
|
|
|
Query
|
dxdatemm |
Integer |
|
Recommended |
Diagnosis of autism month |
1::12
|
1=Jan; 2=Feb; 3=Mar; 4=Apr; 5=May; 6=Jun; 7=Jul; 8=Aug; 9=Sep; 10=Oct; 11=Nov; 12=Dec
|
|
Query
|
dxdateyyyy |
Integer |
|
Recommended |
Diagnosis of autism year |
|
|
|
Query
|
dxmadeby |
Integer |
|
Recommended |
Diagnosis made by |
1::13
|
1=Neurologist; 2=Developmental Pediatrician; 3=Pediatrician; 4=Geneticist; 5=Psychiatrist; 6=Psychologist; 7=Family Practitioner; 8=Therapist; 9=Teacher; 10=Family Member; 11=Other Subspecialist; 12=Specific physician; 13=Other
|
|
Query
|
dxmadebyna |
Integer |
|
Recommended |
Diagnosis made by Not applicable if this is an unaffected individual |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
|
diag_diagnosismadeby_otr |
String |
4,000
|
Recommended |
Diagnosis made by Other specified |
|
|
dxmadebyotherspecify |
|
dxothermutationspecify |
String |
150
|
Recommended |
Diagnosis Other Mutation Specify |
|
|
|
Query
|
dxother_autistic |
Integer |
|
Recommended |
DxOther: Autistic |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
cfmh_othr_devdelay |
Integer |
|
Recommended |
Developmental Delay |
1;0
|
0 = No; 1 = Yes
|
dxother_developmentaldelay |
Query
|
dxother_infencephal |
Integer |
|
Recommended |
DxOther: Infantile encephalopathy |
0; 1
|
0 = unchecked box; 1 = checked box
|
dxother_infantileencephalopathy |
Query
|
dxother_learndisab |
Integer |
|
Recommended |
DxOther: Learning Disabilities |
0; 1
|
0 = unchecked box; 1 = checked box
|
dxother_learningdisabilities |
Query
|
dxother_normal |
Integer |
|
Recommended |
DxOther: Normal |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
dxother_other |
Integer |
|
Recommended |
DxOther: Other |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
earlyonsetseizures |
Integer |
|
Recommended |
Early onset seizures 5 months |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
encephalopathy |
Integer |
|
Recommended |
Early 4 months severe postnatal encephalopathy |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
epilepsy |
Integer |
|
Recommended |
Myoclonic epilepsy refractory to treatment |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
|
foxg1mutationsother |
String |
150
|
Recommended |
Common FOXG1 mutations Other |
|
|
|
Query
|
foxg1mutations_560dupg |
Integer |
|
Recommended |
FOXG1Mutations: 560dupG |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
foxg1mutations_n253d |
Integer |
|
Recommended |
FOXG1Mutations: N253D |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
foxg1mutations_other |
Integer |
|
Recommended |
FOXG1Mutations: Other |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
gaitabnormalities |
Integer |
|
Recommended |
Gait abnormalities |
0::2; 999
|
2=No Gait; 1=Yes; 0=No; 999=Not Known
|
|
Query
|
genetictestlab |
Integer |
|
Recommended |
Indicate the lab that performed the genetic test |
1::14
|
1=Baylor College; 2=Boston Children's Hospital; 3=Greenwood Genetic Center; 4=Boston University; 5=Athena Diagnostics; 6=Lab Corp; 7=Quest Diagnostics; 8=University of Chicago; 9=Children's National; 10=ARUP; 11=Duke;12= Emory Genetics; 13=Other; 14 =GeneDx
|
|
Query
|
growthretardation |
Integer |
|
Recommended |
Growth retardation |
0;1
|
1=Yes; 0=No
|
|
Query
|
inappropriatelaughing |
Integer |
|
Recommended |
Inappropriate laughingscreaming spells |
0;1
|
1=Yes; 0=No
|
|
Query
|
intenseeyepointing |
Integer |
|
Recommended |
Intense eye communication eye pointing |
0;1
|
1=Yes; 0=No
|
|
|
labother |
String |
100
|
Recommended |
Indicate the lab that performed the genetic test Other |
|
|
|
|
labresultsnotscannedexplain |
String |
150
|
Recommended |
Gene test results deidentified and scanned into database If no explain |
|
|
|
Query
|
labresultsscanned |
Integer |
|
Recommended |
Gene test results deidentified and scanned into database |
0;1
|
1=Yes; 0=No
|
|
Query
|
lossofhandskills |
Integer |
|
Recommended |
Loss of acquired purposeful hand skills |
0;1
|
1=Yes; 0=No
|
|
Query
|
lossofspokenlanguage |
Integer |
|
Recommended |
Loss of acquired spoken language including babbling |
0;1
|
1=Yes; 0=No
|
|
Query
|
lowerbodytemp |
Integer |
|
Recommended |
Lower Baseline Body Temperature |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
mcp2duplications |
Integer |
|
Recommended |
MECP2 Duplications |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
mecp2largedeletions_exon12 |
Integer |
|
Recommended |
MECP2LargeDeletions: Exon 1+2 |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
mecp2largedeletions_exon14 |
Integer |
|
Recommended |
MECP2LargeDeletions: Exon 1-4 |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
mecp2largedeletions_exon3 |
Integer |
|
Recommended |
MECP2LargeDeletions: Exon 3 |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
mecp2largedeletions_exon34 |
Integer |
|
Recommended |
MECP2LargeDeletions: Exon 3+4 |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
mecp2largedeletions_exon4 |
Integer |
|
Recommended |
MECP2LargeDeletions: Exon 4 |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
microcephaly |
String |
10
|
Recommended |
This individual has a head circumference smaller than 2 standard deviations below the mean for gender and age |
TRUE; FALSE; UNKNOWN
|
|
|
Query
|
muscletone |
Integer |
|
Recommended |
Abnormal muscle tone |
0;1
|
1=Yes; 0=No
|
|
Query
|
mutation |
Integer |
|
Recommended |
Indicate if there is a mutation in MECP2 CDKL5 FOXG1 or there is a MECP2 duplication |
0::2
|
1=Yes; 0=No; 2=Pending
|
|
|
mutationpendingexplain |
String |
25
|
Recommended |
MECP2 CDKL5 FOXG1 MECP2 duplication mutation pending result explain |
|
|
|
Query
|
mutationtestdd |
Integer |
|
Recommended |
If pending indicate date test was sent DDMMMYYYY day |
|
|
|
Query
|
mutationtestmm |
Integer |
|
Recommended |
If pending indicate date test was sent DDMMMYYYY month |
1::12
|
1=Jan; 2=Feb; 3=Mar; 4=Apr; 5=May; 6=Jun; 7=Jul; 8=Aug; 9=Sep; 10=Oct; 11=Nov; 12=Dec
|
|
Query
|
mutationtestyy |
Integer |
|
Recommended |
If pending indicate date test was sent DDMMMYYYY year |
|
|
|
Query
|
organomegaly |
Integer |
|
Recommended |
Organomegaly |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
othermcp2dup_flna |
Integer |
|
Recommended |
OtherMCP2Duplication: FLNA |
0; 1
|
0 = unchecked box; 1 = checked box
|
othermcp2duplication_flna |
Query
|
othermcp2dup_irak1 |
Integer |
|
Recommended |
OtherMCP2Duplication: IRAK1 |
0; 1
|
0 = unchecked box; 1 = checked box
|
othermcp2duplication_irak1 |
Query
|
othermcp2dup_l1cam |
Integer |
|
Recommended |
OtherMCP2Duplication: L1CAM |
0; 1
|
0 = unchecked box; 1 = checked box
|
othermcp2duplication_l1cam |
|
othermcp2mutations |
String |
150
|
Recommended |
2d Other MECP2 Mutations not listed above and including all insertions |
|
|
|
Query
|
othermecp2mutations |
Integer |
|
Recommended |
Other MECP2 Mutations |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
periodofregression |
Integer |
|
Recommended |
Period of regression followed by stabilizationrecovery |
0;1
|
1=Yes; 0=No
|
|
Query
|
recurrentinfectionsongoing |
String |
5
|
Recommended |
Recurrent infections ie 2 pneumonia or sinus infections per year 8 OM per year abscesses Ongoing |
Yes; No; NK
|
|
reccurrrespirinfections |
Query
|
dx_regression |
Integer |
|
Recommended |
Early 5 months regression |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
regression |
Query
|
regressionagemonths |
Integer |
|
Recommended |
Age at Regression month |
|
|
|
Query
|
regressionageyears |
Integer |
|
Recommended |
Age at Regression years |
|
|
|
Query
|
regressiondatedd |
Integer |
|
Recommended |
Age at Regression Date Day |
|
|
|
Query
|
regressiondatemm |
Integer |
|
Recommended |
Age at Regression Date Month |
1::12
|
1=Jan; 2=Feb; 3=Mar; 4=Apr; 5=May; 6=Jun; 7=Jul; 8=Aug; 9=Sep; 10=Oct; 11=Nov; 12=Dec
|
|
Query
|
regressiondateyy |
Integer |
|
Recommended |
Age at Regression Date Year |
|
|
|
Query
|
regressionna |
Integer |
|
Recommended |
Age at Regression Not applicable |
0; 1
|
0 = unchecked box; 1 = checked box
|
|
Query
|
retardation |
Integer |
|
Recommended |
Growth retardation before birth |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
retinopathy |
Integer |
|
Recommended |
Retinopathy |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
scoliosis |
Integer |
|
Recommended |
Scoliosiskyphosis |
0;1
|
1=Yes; 0=No
|
|
Query
|
disruptedslee |
String |
10
|
Recommended |
Disrupted sleep pattern |
Yes; No; Unknown
|
|
sleeppattern |
Query
|
cold_handfeet |
String |
6
|
Recommended |
Does (did) the Child have Cold or clammy hands and feet, even in normal ambient temperature? |
TRUE;FALSE
|
|
smallcoldhands |
Query
|
spasms |
Integer |
|
Recommended |
Presence of infantile spasms |
0;1; 999
|
1=Yes;0= No; 999=Not known
|
|
Query
|
stereotypichandmovements |
Integer |
|
Recommended |
Stereotypic or repetitive hand movements |
0;1
|
1=Yes; 0=No
|
|
Query
|
vasomotordisturbance |
Integer |
|
Recommended |
Peripheral vasomotor disturbance |
0;1
|
1=Yes; 0=No
|
|