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intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTCF on chromosome 16q22.1.
Mondo Term and Equivalent IDs
MONDO:0014213:  intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Orphanet:363611: 
UMLS:C3809686: