Congenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome is an ultra-rare genetic mitochondrial myopathy. It is described by ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is an ultra-rare genetic mitochondrial myopathy. In very simple ...
Basel-Vanagaite-Smirin-Yosef syndrome is a very rare inherited genetic disorder. It mainly affects brain development, learning, speech, growth, and several ...
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is a very rare genetic disorder. It starts early in life. A ...
Congenital cataract-ichthyosis syndrome is an extremely rare inherited disorder in which a baby is born with cataract and ichthyosis together. A cataract means ...
Congenital respiratory-biliary fistula, also called congenital tracheobiliary fistula or congenital bronchobiliary fistula, is a very rare birth defect. In ...
Congenital bronchobiliary fistula is a very rare birth defect. In this condition, an abnormal tube-like passage connects part of the breathing system, such as ...
Inherited glutamine synthetase deficiency, also called congenital glutamine deficiency or GLUL-related glutamine synthetase deficiency, is an ultra-rare ...
Congenital brain dysgenesis due to glutamine synthetase deficiency is an ultra-rare inherited neurometabolic disease. It is also called GLND, congenital ...
Serpentine-like syndrome is a very rare congenital malformation syndrome. “Congenital” means the baby is born with it. It is mainly described by a very short ...
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome is an ultra-rare birth defect syndrome. It is also called a rare syndromic ...
Congenital bowing of long bones means a baby is born with one or more arm or leg bones that curve more than usual. It is not one single disease. It is a sign ...
Cerulean cataract is a rare kind of childhood or developmental cataract. A cataract means the natural lens of the eye becomes cloudy instead of staying clear. ...
Congenital blue dot cataract, also called cerulean cataract, is a type of childhood lens opacity in which many tiny bluish or whitish dots appear in the lens, ...
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome is a very rare inherited metabolic disease. It is also called alpha-methylacyl-CoA racemase ...
Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid is a very rare inherited bile acid synthesis disorder. It is ...
Alpha-methyl-acyl-CoA racemase deficiency, often shortened to AMACR deficiency, is a very rare inherited metabolic disease. It happens when the body cannot ...
2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This ...
Congenital bile acid synthesis defect 4, also called CBAS4 or AMACR deficiency, is a very rare inherited disorder caused by harmful changes in the AMACR gene. ...
CYP7B1 oxysterol 7-alpha-hydroxylase deficiency is a very rare inherited disease. It happens when both copies of the CYP7B1 gene do not work properly. This ...
