Additional Disease Briefs

congenital brain dysgenesis due to glutamine synthetase deficiency

Also known as: congenital brain dysgenesis due to glutamine synthetase deficiency, congenital glutamine deficiency, glutamine deficiency, congenital, glutamine synthase deficiency, congenital systemic, glutamine synthetase deficiency, congenital systemic, inherited GS deficiency, inherited glutamine synthetase deficiency

congenital bronchobiliary fistula

congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Also known as: BASEL-Vanagaite-SMIRIN-YOSEF syndrome, BVSYS, Basel-Vanagait-Smirin-Yosef syndrome

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

Also known as: congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome, congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, mitochondrial Complex deficiency, combined, myopathy with cataract and combined respiratory chain deficiency, myopathy with cataract and combined respiratory-chain deficiency, myopathy, mitochondrial progressive, with congenital cataract and developmental delay, myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

congenital cataracts-facial dysmorphism-neuropathy syndrome

Also known as: CCFDN, cataract, congenital, with Facial Dysmorphism and neuropathy, congenital cataracts, facial dysmorphism, and neuropathy, congenital cataracts-facial dysmorphism-neuropathy syndrome

congenital cerebellar ataxia due to RNU12 mutation

congenital chylothorax

Also known as: chylothorax, congenital, hydrothorax, congenital

congenital communicating hydrocephalus

Also known as: congenital non-obstructive hydrocephalus

congenital complete agenesis of pericardium