HudsonAlpha Institute for Biotechnology Clinical Sequencing Exploratory Research (CSER): Genomic Diagnosis in Children with Developmental Delay

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Anthropometry (2)

HEIGHT - Subject's height at the time of enrollment (phv00262180.v4.p1)
WEIGHT - Subject's weight at the time of enrollment (phv00262181.v4.p1)

Demographics (3)

AGE - Subject's age at end of study (phv00262179.v4.p1)
SEX - Biological sex (phv00262173.v4.p1)
SEX - Gender of subject (phv00493320.v1.p1)

Disease Events (5)

Autism spectrum disorder - Phenotype of proband: Autism spectrum disorder (phv00262235.v4.p1)
Brain malformation - Phenotype of proband: Brain malformation (phv00262236.v4.p1)
Congenital heart malformation - Phenotype of proband: Congenital heart malformation (phv00262237.v4.p1)
Seizures - Phenotype of proband: Seizures (phv00262251.v4.p1)
Speech delay - Phenotype of proband: Speech delay (phv00262253.v4.p1)

Imaging (1)

Facial dysmorphism - Phenotype of proband: Facial dysmorphism (phv00262239.v4.p1)

Race and Ethnicity (2)

ETHNIC_GROUP - Ethnic group with which the subject identifies (phv00262184.v4.p1)
RACE - Racial group with which the subject identifies (phv00262183.v4.p1)

Other (31)

AFFECTION_STATUS - Developmental delay and/or intellectual disability (phv00493321.v1.p1)
ANALYTE_TYPE - Analyte Type (phv00262187.v4.p1)
Ataxia - Phenotype of proband: Ataxia (phv00262233.v4.p1)
Auditory - Phenotype of proband: Auditory (phv00262234.v4.p1)
CONSENT - Consent group as determined by DAC (phv00262167.v4.p1)
Craniofacial - Phenotype of proband: Craniofacial (phv00262238.v4.p1)
Failure to thrive - Phenotype of proband: Failure to thrive (phv00262240.v4.p1)
FAMILY_ID - Family ID (phv00262169.v4.p1)
FATHER - Father's Subject ID (phv00262172.v4.p1)
Gastrointestinal - Phenotype of proband: Gastrointestinal (phv00262241.v4.p1)
Growth retardation - Phenotype of proband: Growth retardation (phv00262242.v4.p1)
Hypertonia - Phenotype of proband: Hypertonia (phv00262243.v4.p1)
Hypotonia - Phenotype of proband: Hypotonia (phv00262244.v4.p1)
Intellectual disability (moderate) - Phenotype of proband: Intellectual disability (moderate) (phv00262245.v4.p1)
Intellectual disability (severe) - Phenotype of proband: Intellectual disability (severe) (phv00262246.v4.p1)
Macrocephaly - Phenotype of proband: Macrocephaly (phv00262247.v4.p1)
Microcephaly - Phenotype of proband: Microcephaly (phv00262248.v4.p1)
MOTHER - Mother's Subject ID (phv00262171.v4.p1)
Muscle weakness - Phenotype of proband: Muscle weakness (phv00262249.v4.p1)
MZ_TWIN_ID - Twin ID for monozygotic twins and multiples. An MZ_TWIN_ID is not provided for dizygotic twins or multiples. (phv00262174.v4.p1)
Opthalmologic - Phenotype of proband: Opthalmologic (phv00262250.v4.p1)
SAMPLE_ID - De-identified Sample ID (phv00262186.v4.p1)
SAMPLE_ID - Sample ID (phv00262176.v4.p1)
SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00262188.v4.p1)
Skeletal/limb abnormalities - Phenotype of proband: Skeletal/limb abnormalities (phv00262252.v4.p1)
Stereotypic behaviors - Phenotype of proband: Stereotypic behaviors (phv00262254.v4.p1)
SUBJECT_ID - De-identified Subject ID (phv00262178.v4.p1)
SUBJECT_ID - Subject ID (phv00262170.v4.p1)
SUBJECT_ID - Subject ID (phv00262166.v4.p1)
SUBJECT_ID - Subject ID (phv00262175.v4.p1)
VALIDATION_CENTER - Name of the center which conducted Sanger sequencing for confirmation of the variant (phv00262189.v4.p1)