Rare Disease Library

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Congenital cataract microcornea with corneal opacity

CCMCO

Congenital cataract-anterior segment dysgenesis syndrome

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

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital cerebellar ataxia due to RNU12 mutation

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

Congenital chloride diarrhea

Congenital chronic diarrhea with protein-losing enteropathy

Congenital chronic diarrhea with exudative enteropathy

Congenital chylothorax

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

Congenital complete agenesis of pericardium

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital cornea plana

Congenital coronary artery aneurysm

Congenital coronary aneurysm

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital deficiency in alpha-fetoprotein

Congenital deformities of fingers

Congenital deformities of limbs

Congenital diaphragmatic hernia

CDH

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein 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 developmental anomaly

CDG with developmental anomaly

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital disorder of glycosylation with neurological involvement

CDG with neurological involvement

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

Congenital dyserythropoietic anemia

CDA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital ectropion

Congenital ectropion uveae

Congenital elbow dislocation, bilateral

Congenital elbow dislocation, unilateral

Congenital enterocyte heparan sulfate deficiency

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency