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Search Results for -
3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY
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Also searched for:
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
3-METHYLCROTONYLGLYCINURIA I
BETA-METHYLCROTONYLGLYCINURIA TYPES I OR II - 210200 OR 210210
BETA-METHYLCROTONYLGLYCINURIA, TYPE 1
BMCC DEFICIENCY
DEFICIENCY OF METHYLCROTONOYL-COA CARBOXYLASE
DEFICIENCY OF METHYLCROTONOYL-COENZYME A CARBOXYLASE
MCC DEFICIENCY
MCC1 DEFICIENCY
MCCD TYPE 1
METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
METHYLCROTONYL-COENZYME A CARBOXYLASE DEFICIENCY
METHYLCROTONYLGLYCINURIA TYPE I
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Repository:
NINDS Repository
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NIGMS Human Genetic Cell Repository
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NHGRI Sample Repository for Human Genetic Research
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Heritable Diseases
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Parkinsonism
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NHGRI Sample Repository for Human Genetic Research
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The 90+ Study
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CMD Specific
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"Intra-abdominal fat and risk of disease in children and adolescents" study
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Alzheimer's Disease
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Venezuelan Huntington Disease
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Canadian Alzheimer Disease
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Disorders of the Urea Cycle
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Maturity-Onset Diabetes of the Young
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Retinitis Pigmentosa Foundation Collection
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human variation panel
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hybrid regional mapping panel
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hybrid mapping panel
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Affected:
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(29264)
No
(8981)
At Risk
(3250)
Unknown
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Mutation Data Available:
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(49351)
Y
(5986)
No
(5)
Source:
B-Lymphocyte
(20884)
LCL
(16545)
Whole Blood
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Skin, Arm
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Gonad, Gonad
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Skin, Thorax
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Artery, iliac
(9)
Artery, pulmonary
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Back
(8)
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Skin, Inguinal area
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Whole embryo, Embryo
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Breast organoid
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Muscle, Unspecified
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Conjunctiva, Conjunctiva
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Ascites fluid, Ascites fluid
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Brain, Brain
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Chest
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Endothelial
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Ewing sarcoma
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Fetal, Arm
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Heart, Unspecified
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Hydatidiform mole
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Other
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dbGap Data Available:
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(6422)
Extended Clinical Data Available:
No
(29654)
Yes
(25688)
Age at Sampling (Years):
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(6722)
45-54
(6335)
65-74
(5361)
35-44
(5232)
5-14
(4634)
25-34
(4097)
15-24
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0-4
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75-89
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100+
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