Rare Disease Library

Congenital cataract-anterior segment dysgenesis syndrome

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

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

MGA7 · 3-methylglutaconic aciduria type 7

Adrenogenital syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-congenital heart disease-neural tube defect syndrome

Cataract-microcornea syndrome

Congenital and infantile nephrotic 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-severe neonatal hepatopathy-global developmental delay syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital high airway obstruction syndrome

CHAOS

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital long QT syndrome

Congenital LQTS

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Congenital myasthenic syndrome

CMS

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital or early infantile CACH syndrome

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Congenital vascular bone syndrome

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypomyelination-congenital cataract syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Lethal congenital contracture syndrome

LCCS

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lethal congenital contracture syndrome type 3

LCCS3

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome