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Metadata
ID DOID:0060805
Name Prieto syndrome
Definition A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21.
https://www.ncbi.nlm.nih.gov/pubmed/1673297, https://www.ncbi.nlm.nih.gov/pubmed/3121220
Xrefs

OMIM:309610

ORDO:2958

Subsets

DO_rare_slim

Synonyms

Prieto-Badia-Mulas syndrome [EXACT]

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

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