Disease Directory

Congenital myopathy 4B, autosomal recessive is a form of congenital muscle disorder that is present from birth and primarily affects muscle function....

Congenital myopathy 7A is a muscle disorder primarily affecting skeletal muscle function and is characterized by muscle weakness and abnormalities det...

Congenital myopathy with internal nuclei and atypical cores is a genetic skeletal muscle disorder characterized by neonatal hypotonia, distal greater...

Congenital myopathy with myasthenic-like onset is a rare, non-dystrophic myopathy that primarily affects skeletal muscle function. The condition is ch...

Congenital myopathy with reduced type 2 muscle fibers is a disorder affecting skeletal muscles that is present from birth. It is associated with genet...

Congenital myopathy, Paradas type is an early-onset muscle condition that primarily affects movement from birth. Affected infants often display low mu...

Congenital myotonic dystrophy is a form of myotonic dystrophy that is present at birth, primarily affecting neuromuscular function. This condition is...

Congenital narrowing of cervical spinal canal is a rare neurological condition defined by a reduced bony diameter of the cervical spinal canal. This s...

Congenital nephrotic syndrome, Finnish type is a kidney disorder that presents at or soon after birth with significant protein loss beginning during f...

Congenital neuronal ceroid lipofuscinosis is a severe neurologic condition that presents at birth with marked neurological impairment. Affected infant...

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is a multi-system condition characterized by severe abnormalities in blood cell production,...

Congenital non-bullous ichthyosiform erythroderma is a variant of congenital ichthyosis characterized by widespread redness of the skin with fine, whi...

Congenital non-communicating hydrocephalus is a condition present at birth that involves an abnormal build‐up of cerebrospinal fluid due to obstructio...

Congenital nongoitrous hypothyroidism 3 is a condition affecting thyroid function that is present from birth, and it is characterized by resistance to...

Congenital nongoitrous hypothyroidism 6 is a form of congenital hypothyroidism caused by a mutation in the THRA gene. This condition affects thyroid h...

Congenital nonspherocytic hemolytic anemia is a group of inherited anemias characterized by the premature destruction of red blood cells due to a defe...

Congenital oculomotor nerve palsy is a condition present at birth that involves an impairment in the function of the third cranial nerve, which is res...

Congenital optic disk excavation is a developmental anomaly affecting the optic nerve head that is identified through detailed eye examinations. It in...

Congenital or early infantile CACH syndrome is a condition that presents during infancy with clinical features that are not yet well characterized. Th...

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is a severe condition that affects skeletal development, cranial formation, and eye...