Rare Disease Library

Congenital axonal neuropathy with encephalopathy

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

Congenital deficiency in alpha-fetoprotein

Congenital esophageal diverticulum

Congenital esophageal pouch

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

Congenital functional phagocyte defect

Congenital functional defect of phagocyte · Constitutional functional phagocyte defect

Congenital hydrocephalus

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital primary aphakia

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

Congenital symblepharon

Congenital velopharyngeal incompetence

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Craniopharyngioma

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Craniotelencephalic dysplasia

Cree leukoencephalopathy

Cystic leukoencephalopathy without megalencephaly

CLWM

Cytophagic histiocytic panniculitis

CHP · Winkelmann cytophagic panniculitis

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Diaphanospondylodysostosis

DSD

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Diencephalic-mesencephalic junction dysplasia

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

Diphallia

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Disorder of pentose phosphate metabolism

Disorder of peroxisomal alpha-, beta- and omega-oxidation

Disorder of tryptophan metabolism

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Duplication of the esophagus

Dysphagia lusoria

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts