Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mental retardation, X-linked syndromic, Turner type

Disorder
OMIM #: #309590  (Click to access OMIM database)
Disorder: Mental retardation, X-linked syndromic, Turner type 
Also known as: JUBERG-MARSIDI SYNDROME
JMS BROOKS-WISNIEWSKI-BROWN SYNDROME MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE
MRXSBWB MENTAL RETARDATION AND MACROCEPHALY SYNDROME 
Clinical
Phenotype: developmental delay/mental retardation, dysmorphic features 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: HUWE1
Base Change: G>A, at nucleotide 12389
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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