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Search Results for -
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
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Also searched for:
ATAXIA-TELANGIECTASIA VARIANT V1
AT-V1
AT-V2
BBS
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY
NBS
NBS - NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME
SEEMANOVA SYNDROME II
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Repository:
NINDS Repository
(26606)
NIGMS Human Genetic Cell Repository
(17999)
NHGRI Sample Repository for Human Genetic Research
(7465)
NIA Aging Cell Culture Repository
(4273)
Autism
(362)
HD Community Biorepository
(48)
Centers for Disease Control and Prevention Repository
(19)
Collection:
Heritable Diseases
(11476)
NHGRI Sample Repository for Human Genetic Research
(7465)
Parkinsonism
(6678)
Control
(6396)
Cerebrovascular Disease
(5775)
Motor Neuron Disease
(5129)
Epilepsy
(3430)
Chromosome Abnormalities
(2882)
Human Variation
(1897)
CEPH
(1616)
Apparently Healthy Collection
(1613)
dbGaP
(1327)
PIGI Consented Sample
(1256)
Old Order Amish Major Affective Disorder
(1009)
University of Georgia Centenarian Study
(853)
Repository Linkage Families
(816)
GRC
(780)
Lysosomal Storage Diseases
(737)
Tourette Syndrome
(627)
Hybrids
(558)
Muscular Dystrophies
(544)
GeT-RM Samples
(509)
Animals
(499)
Hereditary Cancers
(382)
Pharmacogenetics
(333)
The 90+ Study
(331)
CMD Specific
(268)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(249)
Venezuelan Huntington Disease
(243)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(225)
Dystonia
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(120)
Nonhuman Primates
(112)
German Alzheimer Disease
(99)
Stem Cell Collection
(87)
FOXG1
(85)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(51)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(31)
Non-Healing Wound Collection
(16)
Apparently healthy iPSCs
(15)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(11)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(4)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
LCL
(25925)
DNA
(25165)
Fibroblast
(4823)
Somatic cell hybrid
(322)
iPSC
(117)
mESC
(87)
Smooth muscle
(61)
High Molecular Weight DNA
(58)
Endothelial
(47)
Plasmid
(37)
Amniotic fluid-derived cell line
(23)
Preprocessed DNA
(20)
Epithelial
(15)
Tumor-derived cell line
(15)
96 well plate of DNA samples
(11)
Neuronally-derived
(10)
Hybridoma
(7)
Myeloma
(7)
Adipose stromal cell
(5)
Mesothelial
(4)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Protein
(1)
Affected:
Yes
(25808)
No
(14456)
Unknown
(3163)
At Risk
(2847)
Mutation Data Available:
N
(50879)
Y
(5882)
No
(11)
Source:
B-Lymphocyte
(25984)
LCL
(21566)
Whole Blood
(1959)
Fibroblast
(1481)
Skin, Arm
(1071)
Skin, Unspecified
(487)
Somatic cell hybrid
(236)
Skin, Skin
(228)
Lung, Lung
(106)
Skin, Ear
(65)
Skin, Thigh
(65)
Skin, Foreskin
(60)
Aorta, thoracic
(57)
Skin, Abdomen
(27)
Amniotic fluid
(23)
Blood
(15)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Brain striatum
(10)
Gonad, Gonad
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Hip
(5)
Skin, Right ischium
(5)
Amniotic fluid-derived cell line
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
Stem cell
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Sex:
Female
(28527)
Male
(27371)
Other
(26)
Race:
White
(37320)
Black/African American
(3381)
Asian
(747)
More than one race
(595)
Other
(543)
Unknown
(419)
Hispanic/Latino
(337)
Caucasian
(315)
Asiatic Indian
(252)
Chinese
(217)
American Indian/Alaska Native
(130)
Native Hawaiian/Other Pacific Islander
(70)
East Indian
(62)
Not Reported
(37)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(48786)
Yes
(7986)
Extended Clinical Data Available:
No
(29388)
Yes
(27384)
Age at Sampling (Years):
45-54
(7116)
55-64
(7050)
35-44
(5781)
65-74
(5524)
25-34
(4502)
5-14
(4079)
15-24
(3570)
0-4
(3527)
75-89
(3271)
90-99
(645)
100+
(237)
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