Rare Disease Library

Congenital microcoria

Congenital miosis

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital alacrima

Congenital amyoplasia

Amyoplasia congenita

Congenital aortic valve stenosis

Congenital bilateral megacalycosis

Congenital cervical spinal stenosis

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

Congenital chylothorax

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital cornea plana

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital ectropion

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

Congenital genu flexum

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital heart block

Congenital atrioventricular block

Congenital hemangioma

Congenital laryngeal cyst

Congenital laryngeal palsy

Congenital vocal cord paralysis

Congenital long QT syndrome

Congenital LQTS

Congenital macroglossia

Congenital megacalycosis

Congenital megaprepuce

Isolated congenital buried penis

Congenital microgastria

Congenital mitral malformation

Congenital mitral stenosis

Congenital myopathy

Congenital myotonia

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

Congenital neutropenia

Constitutional neutropenia

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital secondary polycythemia

Congenital secondary erythrocytosis

Congenital short QT syndrome

Congenital SQTS

Congenital sialidosis type 2

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

Congenital subglottic stenosis

Congenital symblepharon

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital temporomandibular joint ankylosis

Congenital trismus