Disease Index

congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain

human disease

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth

neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis

human disease

peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy

human disease

peroxisomal biogenesis disorder that has material basis in defects in PEX genes

inherited metabolic disorder that involves peroxisome malfunction

human disease

autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure

human disease

Human disease

human disease

human disease

Human disease

human disease

human disease

human disease

intersex variation where one has XY chromosomes, male-typical reproductive organs and external genitalia, and some component(s) of a female-typical reproductive tract

congenital heart defect in humans

human disease caused by the bacteria Bordetella pertussis

range of neurodevelopmental conditions

Human disease

human disease

syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability