Rare Disease Library

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

Hypomyelination-congenital cataract syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature