Disease #00868

Official abbreviation -
Name Eagle-Barrett syndrome
OMIM ID 100100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene CHRM3
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00229574 - Yakoreva et al. submitted Two sibs having variant on maternal allele and pseudohypoparathyroidism, and mother has variant on paternal allele causing pseudopseudohypoparathyroidism F - Estonia - - 0 - - Eagle-Barrett syndrome - - GNAS 1 3 Sander Pajusalu
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