Rare Disease Library

Congenital disorder of glycosylation with deafness as a major feature

Congenital disorder of glycosylation with hearing loss as a major feature · CDG with hearing loss as a major feature

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

Chromosomal anomaly with epilepsy as a major feature

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Dysostosis with limb anomaly as a major feature

Other syndrome with lissencephaly as a major feature

Rare disease with adrenal Cushing syndrome as a major feature

Rare disease with glaucoma as a major feature

Rare disease with myoclonus as a major feature

Rare disorder with Hirschsprung disease as a major feature

Syndrome with limb malformations as a major feature

Syndrome with microcephaly as a major feature