Demographics (4)
- age - Age at testing (phv00219128.v2.p1)
- age_onset - Disease onset age (phv00219124.v2.p1)
- sex - Gender of participant (phv00219126.v2.p1)
- SEX - Sex (phv00219117.v2.p1)
Disease Events (23)
- AFFECTION_STATUS - Case (clinically diagnosed or not clinically diagnosed with Aicardi Syndrome) - control status of the subject (parents - no diagnosed disorders) (phv00219112.v2.p1)
- Aicardi Syndrome - Aicardi Syndrome (phv00283940.v1.p1)
- Ataxia - Ataxia (phv00283925.v1.p1)
- Autistic Disorder - Autistic Disorder (phv00283938.v1.p1)
- bronchiolitis obliterans - Bronchiolitis obliterans (phv00283947.v1.p1)
- Common Variable Immunodeficiency - Common Variable Immunodeficiency (phv00283930.v1.p1)
- Constipation - Constipation (phv00283933.v1.p1)
- Dystonia - Dystonia (phv00283941.v1.p1)
- Epilepsy - Epilepsy (phv00283924.v1.p1)
- Gastroesophageal Reflux - Gastroesophageal Reflux (phv00283934.v1.p1)
- Heart Septal Defect_Ventricular - Heart Septal Defect, Ventricular (phv00283931.v1.p1)
- Heart Septal Defects_Atrial - Heart Septal Defects, Atrial (phv00283932.v1.p1)
- HYPERTENSION_PULMONARY - Hypertension, Pulmonary (phv00283936.v1.p1)
- Hypotension_Orthostatic - Hypotension, Orthostatic (phv00283946.v1.p1)
- Intellectual Disability - Intellectual Disability (phv00283921.v1.p1)
- Leukoencephalopathies - Leukoencephalopathies (phv00283943.v1.p1)
- Lipodystrophy - Lipodystrophy (phv00283937.v1.p1)
- muscular disease - Muscular disease (phv00283951.v1.p1)
- neurofibroma - Neurofibroma (phv00283952.v1.p1)
- Neuronal Ceroid-Lipofuscinoses - Neuronal Ceroid-Lipofuscinoses (phv00283954.v1.p1)
- Peripheral Nervous System Diseases - Peripheral Nervous System Diseases (phv00283942.v1.p1)
- rhabdomyolysis - Rhabdomyolysis (phv00283950.v1.p1)
- schwannomatosis - Schwannomatosis (phv00283949.v1.p1)
General Health (7)
- cataract - Cataract (phv00283944.v1.p1)
- Muscle Hypotonia - Muscle Hypotonia (phv00283923.v1.p1)
- Muscle Spasticity - Muscle Spasticity (phv00283945.v1.p1)
- Neuromuscular Manifestations - Neuromuscular Manifestations (phv00283953.v1.p1)
- Peters Anomaly - Peters Anomaly (phv00283948.v1.p1)
- Scoliosis - Scoliosis (phv00283929.v1.p1)
- Septo-optic dysplasia - Septo-optic dysplasia (phv00283955.v1.p1)
Geography (1)
- birthplace - Place of subject's birth (phv00219125.v2.p1)
Imaging (3)
- Agenesis of Corpus Callosum - Agenesis of Corpus Callosum (phv00283927.v1.p1)
- Developmental disabilities - Developmental disabilities (phv00283922.v1.p1)
- Microcephaly - Microcephaly (phv00283928.v1.p1)
Mental Health (2)
- Attention Deficit Disorder with Hyperactivity - Attention Deficit Disorder with Hyperactivity (phv00283939.v1.p1)
- Feeding and Eating Disorders of Childhood - Feeding and Eating Disorders of Childhood (phv00283935.v1.p1)
Race and Ethnicity (1)
- race - Race of participant (phv00219127.v2.p1)
Other (22)
- Aberration_chromosome - Type of structural change (phv00283920.v1.p1)
- ANALYTE_TYPE - Analyte Type (phv00219132.v2.p1)
- BODY_SITE - Body site where sample was collected (phv00219131.v2.p1)
- CONSENT - Consent group as determined by DAC (phv00219109.v2.p1)
- Diagnosis - Molecular diagnosis (phv00283919.v1.p1)
- FAMILY_ID - Family ID (phv00219113.v2.p1)
- FATHER - Father's Subject ID (phv00219116.v2.p1)
- IS_TUMOR - Tumor status (phv00219133.v2.p1)
- MOTHER - Mother's Subject ID (phv00219115.v2.p1)
- SAMPLE_ID - Sample ID (phv00219119.v2.p1)
- SAMPLE_ID - De-identified Sample ID (phv00219130.v2.p1)
- SAMPLE_SOURCE - Source repository where samples originate (phv00219120.v2.p1)
- SAMPLE_USE - Sample use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing; Seq_RNA_WTSS: Whole transcriptome shotgun sequencing (RNA-seq) (phv00219122.v2.p1)
- Sensorineural hearing loss - Sensorineural hearing loss (phv00283926.v1.p1)
- SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00219135.v2.p1)
- SOURCE_SAMPLE_ID - Sample ID used in the Source Repository (phv00219121.v2.p1)
- SOURCE_SUBJECT_ID - Subject ID used in the Source Repository (phv00219111.v2.p1)
- SUBJECT_ID - De-identified Subject ID (phv00219123.v2.p1)
- SUBJECT_ID - Subject ID (phv00219108.v2.p1)
- SUBJECT_ID - Unique Subject ID (phv00219114.v2.p1)
- SUBJECT_ID - Subject ID (phv00219118.v2.p1)
- SUBJECT_SOURCE - Source repository where subjects originate (phv00219110.v2.p1)