ISCA-37494-Gain

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37494-Gain Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome Xq28 duplication syndrome MIM#300815 intellectual disability hypotonia seizures spasticity recurrent respiratory infections
Green ISCA-37494-Gain Region in Common deletion and duplication syndromes Version 0.158	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Chromosome Xq28 duplication syndrome MIM#300815 intellectual disability hypotonia seizures spasticity recurrent respiratory infections

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology and neurodevelopmental disorders
Version 1.780

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Version 0.158

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

2 panels