Disease #00161 (CHARGE (CHARGE Syndrome), OMIM:214800)

Official abbreviation CHARGE
Name CHARGE Syndrome
OMIM ID 214800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CHD7
Associated tissues eyes;ears;heart muscle
Disease features -
Remarks -


Individuals

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00000797 Yee Lin Lee et al.(2020) F Malaysia - - - - CHARGE constitutional delay in growth and puberty, she was pre-pubertal with no breast, axillary hair or pubic hair development, a CT scan of the temporal bones showed absence of all the semicircular canals bilaterally CHD7 CHD7 1 1 Nur Aisyah Athirah
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