" /> Microphthalmia with limb anomalies - CISMeF





Preferred Label : Microphthalmia with limb anomalies;

Symbol : MLA;

CISMeF acronym : MLA; OAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OAS; ANOPHTHALMIA-SYNDACTYLY; Ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SPARC-related modular calcium-binding 1 gene (SMOC1, 608488.0001);

Prefixed ID : #206920;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.