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Metadata
ID DOID:0080105
Name microcephaly and chorioretinopathy 1
Definition A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
https://www.ncbi.nlm.nih.gov/pubmed/25344692
Xrefs

MIM:251270

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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