Number of the records: 1

CHARGE syndróm

Subject h.	CHARGE syndróm
Subject h.	CHARGE Syndrome
Entry terms	asociácia CHARGE asociácia CHARGE - kolobóm, defekty srdca, choanálna atrézia, oneskorenie vývinu, anomálie uší a genitálu kolobóm, defekty srdca, choanálna atrézia, retardácia vývinu, postihnutieí uší a genitálu syndróm CHARGE, familiárny Hallov-Hittnerov syndróm
English X references	CHARGE Association Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies Familial CHARGE Syndrome
Scope note in English	Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Links	(4) - ARTICLES
	(1) - CiBaMed

subject heading

Number of the records: 1