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Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
Serpentine fibula-polycystic kidney syndrome; Sertoli cell-only syndrome; Serum sickness–like reaction; Setleis syndrome; Severe acute respiratory syndrome; Shaken baby syndrome; Shapiro syndrome; Sheehan's syndrome; Shell nail syndrome; Shone's syndrome; Short anagen syndrome; Short bowel syndrome; Short man syndrome; Short QT syndrome ...
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
respiratory distress syndrome; measles; meconium aspiration syndrome; metapneumovirus (hMPV) infection; necrotizing enterocolitis; neonatal conjunctivitis; parainfluenza (PIV) infection; pertussis; poliomyelitis; prenatal Listeria; Group B streptoccus infection; Tay–Sachs disease; tetanus; Ureaplasma urealyticum infection; respiratory ...
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Congratulations are in order for Kali Uchis and Don Toliver, who announced on Thursday that they've welcomed a baby boy!The couple took to Instagram and posted a sweet video of Kali holding their ...
Multisystem Inflammatory Syndrome MIS-A Multisystem Inflammatory Syndrome in adults MIS-C Multisystem Inflammatory Syndrome in children MJD Machado-Joseph disease: ML mucolipidoses: MLD Metachromatic leukodystrophy: MMA Monomelic amyotrophy: MMR Measles, mumps, rubella: MMRV Measles, mumps, rubella, varicella: MND Motor neuron disease: MODY