Rare Disease Library

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Biliary atresia with splenic malformation syndrome

BASM syndrome

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

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

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital malformation of the eye with glaucoma as a major feature

Dysostosis of genetic origin with limb anomaly as a major feature

Genetic cardiac malformation

Genetic congenital malformation of the eye with glaucoma as a major feature

Genetic cranial malformation

Genetic malformation syndrome with odontal and/or periodontal component

Genetic malformation syndrome with short stature

Genetic non-syndromic central nervous system malformation

Genetic non-syndromic renal or urinary tract malformation

Genetic syndrome with a cerebellar malformation as a major feature

Genetic syndrome with a Dandy-Walker malformation as a major feature

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

Genetic syndrome with limb malformations as a major feature

Genetic syndromic esophageal malformation

Genetic systemic disease with glomerulopathy as a major feature

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with odontal and/or periodontal component

Malformation syndrome with short stature

Non-genetic systemic disease with glomerulopathy as a major feature

Non-syndromic anorectal malformation without fistula

Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

OBSOLETE: Ectodermal malformation syndrome associated with ocular features

Other syndrome with a central nervous system malformation as a major feature

Other syndrome with lissencephaly as a major feature

Rare adrenocortical nodular disease with Cushing syndrome as a major feature

Rare developmental defect during embryogenesis

Malformation syndrome

Rare disease with adrenal Cushing syndrome as a major feature

Rare genetic disease with myoclonus as a major feature

Rare genetic disorder with corneal involvement as a major feature

Rare syndrome with cardiac malformations

Syndrome or malformation associated with head and neck malformations

Syndrome with a central nervous system malformation as a major feature

Syndrome with a cerebellar malformation as a major feature

Syndrome with a Dandy-Walker malformation as a major feature

Syndrome with alpha-thalassemia as a major feature

Syndrome with congenital neutropenia as a major feature

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

Syndrome with congenital phagocyte functional defect as a major feature

Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

Syndrome with limb malformations as a major feature

Syndrome with microcephaly as a major feature

Syndrome with pulmonary hypertension as a major feature