Rare Disease Library

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Triglyceride deposit cardiomyovasculopathy

Neutral lipid storage disease with severe cardiovascular involvement · TGCV