Amish, Mennonite, and Hutterite
Genetic Disorder Database

Thanatophoric dysplasia, type I

Disorder
OMIM #: #187600  (Click to access OMIM database)
Disorder: Thanatophoric dysplasia, type I 
Also known as: THANATOPHORIC DYSPLASIA
TD THANATOPHORIC DWARFISM PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE 
Clinical
Phenotype: severe short-limb dwarfism, curved, short femurs with or without cloverleaf skull 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Old Order Mennonite  
Gene: FGFR3
Base Change: C>T, at nucleotide 742
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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