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GENATLAS PHENOTYPE

last update : 10-09-2019

Symbol	NDDIH
Location	17p13.1
Name	neurodevelopmental disorder with infantile-onset hypotonia
Corresponding gene	POLR2A
Main clinical features	brachyplagiocephaly, a high arched palate , pectus excavatum, recurrent respiratory tract infections, no dysmorphic features feeding difficulties, with gastro-esophageal reflux , resulting in failure to thrive strabismus and delayed visual maturation, mental retradation moderate to severe
Genetic determination	not applicable
Function/system disorder	eye
	mental retardation
	neuromuscular
Type	disease

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