Rare Disease Library

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

Anterior segment developmental anomaly

Anterior segment dysgenesis

Anterior segment developmental anomaly of genetic origin

Anterior segment developmental anomaly with extraocular manifestations

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Developmental anomaly of metabolic origin

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

Primary congenital hypothyroidism without thyroid developmental anomaly