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GENATLAS PHENOTYPE

last update : 14-10-2015

Symbol	MRD34
Location	5q13.3
Name	mental retardation, autosomal dominant 34
Corresponding gene	COL4A3BP
Main clinical features	global developmental delay, broad-based gait, bruxism, drooling, cortical visual impairment, bilateral ptosis, coarse and curly hair, hearing impairment facial dysmorphism with upslanting palpebral fissures, epicanthus, synophrys, anteverted nares, widely spaced teeth, and stereotypic behavior, postnatal microcephaly, and oligohydramnios
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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