Associated Conditions Survey Results
Mowat-Wilson Syndrome (mowatwilson.org)

 Here is a summary of related conditions of MWS by individual complied from our informal online survey
of parents who belong to our Email Support Group for Mowat-Wilson Syndrome.
If you would like to participate on this page you can fill out and submit a survey from our Survey Page or
click here to return to the Community Page For a condensed version of this page go to the Behavior Survey Results Page.

NAME

GENDER

DOB

CLINICAL DIAGNOSIS

GENETIC DIAGNOSIS

HSCR*

HEART CONDITION

ACC**

PYLORIC STENOSIS

HYPOSPADIAS

KIDNEY DISORDER

SEIZURES

 GENETIC TEST RESULTS
CHASE

M

10/13/00

 

.X

X

X

.

X

.

.

X

 Exon 3: c.108delT (p.E37fsX74)
BEN

M

5/15/96

  

X

TBD

    

X

    

X

  
TESS

F

7/10/01

  

X

    

X

  

N/A

  

X

 Exon 6 c.763C>T or/=Q255X
SAMUEL

M

2005

 

X

X

X

X

  

X

X

    
ALESSIO

M

1/12/89

X

  

X

  

X

  

X

  

X1

  
ALEXANDER

M

12/9/02

  

X

X

X

X

X

X

X

X

  
JACK

M

7/18/04

X

  

X

X

X

  

X

X

    
SAM

M

4/23/93

  

X

X

X

      

X

X

 I421 insA Stop 481
TOBIAS

M

9/27/00

  

X

X

X

  

X

    

X

  
ANNA LISA

F

8/1/00

X

  

X

X

X

  

N/A

  

X

  
LOGAN

M

12/5/97

 

X

X

X

    

X

  

X

  

LAUREN

F

2/19/90

 

X

X

X

    

N/A

  

X2

 Exon 8:C>G nt 930 (Tyr 310 Stop.)

SOETKIN

F

4/8/04

  

X

X

      

N/A

X

   Exon 6: c.690-693insA

ISABELLA

F

5/15/03

  

X

 

X

    

N/A

X

   (1427 ins A) stop codon at position 481.

REBECCA

F

12/7/84

  

X

 

X

    

N/A

X

X

  

NEVA

F

2/27/02

  

X

X

X

X

X

N/A

 

X

  

EDIE

F

12/9/84

  

X

 

 

X

 

N/A

 

 

  

ROMANE

F

6/30/98

  

X

X

X

 

 

N/A

 

X

  

RACHEL

F

8/28/90

  

X

 

 

 

 

N/A

 

X

  

EMILY

F

1/3/01

  

X

X

 

X

 

N/A

 

X

  

LAUREN

F

3/3/03

  

X

X

 

 

 

N/A

 

X

 Mutation in exon 8 of the ZFHX1B gene (denoted c.1944delC or p.Pro648ProfsX17)

CATY

F

10/27/94

  

X

X

X

 

 

N/A

 

X

  

KEVIN

M

9/27/94

X

 

X

X

X

X

X

 

X

  

JEREMY

M

4/4/98

 

X

X

X

 

 

X

 

X

  

JAMIE

F

8/13/00

X

 

X

X

 

 

N/A

 

X

  

KELLY

F

11/26/75

X

  

 

X

X

  

N/A

  

X

  

KRISTIAN

M

 10/15/98  

X

  

X

X

      

X

  
CALLUM

M

8/5/95

   X X X   X X   X  
ELIAS

M

2/17/06

 X   X X X       X  
THEO M 9/12/03   X   X X   X   X  
CAROLYN F 2/02   X   X X   N/A     Exon 8: c.1666-1668delA heterozygous
ALEXANDER

M

 12/10/04   X               c.1648C>T (ZFHX1B p.Gln550X)
JOKE

F

 6/23/02   X   X     N/A   X (pR695X) in exon 8 nl c.2083C>T
JUSTIN M 5/15/83   X X   X         957insT
LEE M 8/16/79   X X       X      
CASSIE F 7/5/90 X   X   X X N/A X X  
JACOB M 1/25/99 X               X  
AIME F 11/27/05   X         N/A X   c.2308A>T (p.K770X) in exon 8 of ZFHX1B
RUTHIE F 1/4/02   X         N/A   X Exon 3: c.227_333delAAGCTCT(p.Q76fsX11)
Exon 2: c.20-21insT(D8FsX29)
PAOLO

M

 11/29/02   X X X X   X   X c.2254 dupA p.Tyr752AsnFsX4
SEAN

M

 11/7/01   X X X X       X Microdeletion Chromosome 2 q21.2-22
LAUREL

F

 5/11/05   X   X     N/A      
KARLI

M

 12/12/95   X     x       X arr cgh 2q22.3 (144951538-->146405021)x1(hg17;NBCI( B35)
NAME

GENDER

DOB

CLINICAL DIAGNOSIS

GENETIC DIAGNOSIS

HSCR*

HEART CONDITION

ACC**

PYLORIC STENOSIS

HYPOSPADIAS

KIDNEY DISORDER

SEIZURES

 GENETIC TEST RESULTS
*HIRSCHSPRUNG'S                  
** AGENESIS OF THE CORPUS CALLOSUM                  
1 - UNTIL THE AGE OF 5                  
2- STARTING AT AGE 5                  

 

 

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