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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Intellectual Disability, Nonsyndromic (MAN1B1) Cognitive impairment Autosomal Recessive 9q34.3 Substitution MAN1B1 1189G>A Glu397Lys Missense 0/Rafiq et al., 2011
Intellectual Disability, Nonsyndromic (MAN1B1) Cognitive impairment Autosomal Recessive 9q34.3 Substitution MAN1B1 1418G>A Trp473* Nonsense 0/Rafiq et al., 2011
Intellectual Disability, Nonsyndromic (METTL23) Cognitive impairment Autosomal Recessive 17q25.1 Substitution METTL23 397C>T Gln133* Nonsense 0/Bernkopf et al., 2014