Rare Disease Library

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Cassia Stocco dos Santos syndrome

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

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

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Hadziselimovic syndrome · Microcephaly-faciocardioskeletal syndrome

Neutropenia-monocytopenia-deafness syndrome

Neutropenia-monocytopenia-hearing loss syndrome

OBSOLETE: Cardioskeletal syndrome