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Search Results for -
HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY
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Also searched for:
HRD
HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
SANJAD-SAKATI SYNDROME
209 results -
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Repository:
NIGMS Human Genetic Cell Repository
(206)
NIA Aging Cell Culture Repository
(3)
Collection:
Heritable Diseases
(126)
Chromosome Abnormalities
(111)
Disorders of the Urea Cycle
(47)
dbGaP
(44)
PIGI Consented Sample
(24)
DGAP
(5)
Lysosomal Storage Diseases
(1)
Product:
LCL
(107)
DNA
(64)
Fibroblast
(35)
iPSC
(3)
Affected:
Yes
(127)
No
(9)
Mutation Data Available:
N
(152)
Y
(57)
Source:
B-Lymphocyte
(107)
LCL
(53)
Fibroblast
(14)
Skin, Skin
(13)
Skin, Arm
(3)
Skin, Unspecified
(3)
Skin, Thigh
(2)
Skin, Abdomen
(1)
Sex:
Female
(108)
Male
(101)
Race:
White
(113)
Black/African American
(9)
Hispanic/Latino
(6)
More than one race
(5)
Asian
(3)
Asian, Other
(3)
Asiatic Indian
(2)
Not Reported
(2)
dbGap Data Available:
No
(209)
Extended Clinical Data Available:
No
(184)
Yes
(25)
Age at Sampling (Years):
5-14
(64)
0-4
(51)
15-24
(25)
35-44
(11)
25-34
(10)
45-54
(3)
65-74
(1)
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