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ID DOID:0080226
Name autosomal dominant mental retardation 56
Definition A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.
https://www.ncbi.nlm.nih.gov/pubmed/26822784, https://www.ncbi.nlm.nih.gov/pubmed/29100083
Xrefs

OMIM:617854

Parent Relationships

is_a syndromic intellectual disability

is_a autosomal dominant disease

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