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NA10180 DNA from LCL

Description:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)

Affected:

Yes

Sex:

Male

Age:

7 DA (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Congenital Muscle Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity ASHKENAZI
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Walker-Warburg syndrome; ventriculomegaly with lissencephaly; occipital bony defect with extrusion of CNS; microcornia; microphthalmia; cataract; 46,XY in cultured amniotic fluid cells and PBL; elevated serum CK level

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Walker-Warburg syndrome; ventriculomegaly with lissencephaly; occipital bony defect with extrusion of CNS; microcornia; microphthalmia; cataract; 46,XY in cultured amniotic fluid cells and PBL; elevated serum CK level

External Links

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dbSNP dbSNP ID: 11338
NCBI GTR 236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
OMIM 236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
Omim Description CEREBROOCULAR DYSGENESIS; COD
  CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME
  CHEMKE SYNDROME
  COD-MD SYNDROME
  HARD +/- E SYNDROME
  HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA HARD SYNDROME
  PAGON SYNDROME
  WALKER-WARBURG SYNDROME
  WARBURG SYNDROME
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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