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

10/03/00

 

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

F

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

M

4/11/94   X X X     X   X  
VANYA

F

12/6/05   X         N/A      
ANDREW

M

10/4/08   X X X     X   X  
VICTOR

M

2/22/00 X   X X X X X   X  
JONATHAN

M

9/8/99   X X X X   X X X  
JETHRO

M

2/23/07   X   X X   X X X c.179delc (exon 8.3) (p. His599MetfsX8)
NICHOLAAS

M

1/8/2009   X X X X   X      
BRADY M 6/8/09   X   X X     X X  
MICHELLE F 10/14/98 X   X X X   N/A X X  
JENNIFER F 5/27/96 X     X X   N/A X X Deletion 2q22.2-q22.3
CLAYTON M 11/19/08   X X X   X X X X  
SAMUEL M 10/19/04   X   X X   X   X  
STEPHANIE F 4/2003   X   X X   N/A   X c.690-721del(exon6)
KRISTIAN M 10/15/98   X   X X       X exon 8: c.2372del c ; p.T791fsX816
JAIDEN

F

8/15/07   X X X X   N/A      
SARAH F 2/2/03   X         NA X X c.1966_1967delAT
JELENA F 9/8/2002 X   X X X X NA   X  
TOBY

M

12/26/04   X X X X     X X  
PARKER M 3/16/2001   X     X X X   X 1 copy of a c.2094c>(p.Y698X) nonsense mutation
CHARLIE

M

4/24/06   X   X     X   X  
TERRY

M

5/19/98   X X X X X     X  
FRANK M 7/1/98   X X X X       X  
NICHOLAS

M

8/20/04   X   X X   X   X arrcgh2q22.3(144,873,197-144,9930x3
LOGAN

M

1/11/10   X X X X          
BAY

F

1/13/2009   X X       NA   X  
SAMMIE

F

6/23/97 X     X     NA   X  
SEAN M 12/30/02   X X X X   X   X  
CAITLIN F 4/20/00   X X   X   NA   X  
ADRIA M 5/13/10 X   X X     X     NM_014795.2:c.805C>T (p.Gln269X)

MARTA

F 8/3/2010   X   X         X ZEB p.11e649Thrfs*17/-v NM_014795.3: c.[1946delt];[=]
AINARA F 3/17/2004   X             X  
MATT M 1/6/87   X     X       X one copy of a c.691A>T(p.K231X) Mutation
GEORGE M 8/10/11   X   X     X   X  
SIDNEY F 4/11/00   X   X     N/A X X deletion 2q22.2 to 2q22.3 spanning 4.4 megabases

%

M 55% ********* 19% 81% 56% 70% 53% 18% 60% OF M 22% 79% (c.304dupA)
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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