DISEASE: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Entry
H02415 Disease
Name
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
Description
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical role for TMCO1 in early fetal growth and development has been suggested.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02415 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Rensvold JW, Shishkova E, Sverchkov Y, Miller IJ, Cetinkaya A, Pyle A, Manicki M, Brademan DR, Alanay Y, Raiman J, Jochem A, Hutchins PD, Peters SR, Linke V, Overmyer KA, Salome AZ, Hebert AS, Vincent CE, Kwiecien NW, Rush MJP, Westphall MS, Craven M, Akarsu NA, Taylor RW, Coon JJ, Pagliarini DJ
Title
Defining mitochondrial protein functions through deep multiomic profiling.
