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GENATLAS PHENOTYPE

last update : 20-04-2010

Symbol	CFSMR
Location	1q24.1
Name	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Corresponding gene	TMCO1
Main clinical features	craniofacial dysmorphism, skeletal anomalies, and mental retardation pectus excavatum and club feet, was noted during early infancy, scoliosis and long, hyperextensible fingers, brachycephaly, flat face, low hairline, low-set ears, high-arched palate, and cleft lip and palate, synophris; generalized gingival hyperplasia usually appeared after the eruption of permanent teeth
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)