Additional Disease Briefs

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

congenital contractures of the limbs and face, hypotonia, and developmental delay

Also known as: CLIFAHDD, CLIFAHDD syndrome, congenital contractures of the limbs and face, hypotonia, and developmental delay, congenital limbs-face contractures-hypotonia-developmental delay syndrome