" /> Al-gazali-bakalinova syndrome - CISMeF





Preferred Label : Al-gazali-bakalinova syndrome;

Symbol : AGBK;

CISMeF acronym : AGBK; MMEDF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly with multiple epiphyseal dysplasia and distinctive facies; MMEDF;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0009);

Prefixed ID : #607131;

Détails


Vous pouvez consulter :


Nous contacter.
28/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.