Genetic diseases and disorders
29 entries in the Genetic Diseases and Disorders compendium.
2q37 monosomyRare genetic disorder from terminal deletion of chromosome 2q37.ACDC (medicine)Rare genetic disorder causing arterial and joint calcification.Acrofrontofacionasal dysostosisExtremely rare disorder with multiple congenital anomalies.Acromesomelic dysplasiaRare skeletal disorder causing shortened limbs and abnormal bone growth.Acyl-CoA oxidase deficiencyA rare genetic disorder causing neurodegeneration from birth.AFF2Gene linked to FRAXE intellectual disability.Aicardi–Goutières syndromeRare inflammatory disorder affecting brain and skin, often mimicking congenital infection.Alternating hemiplegiaA rare genetic disorder causing transient, alternating paralysis in early childhood.Alternating hemiplegia of childhoodA rare disorder marked by alternating paralysis that typically resolves during sleep.Ampola syndromeRare disorder from MPST deficiency causing urinary disulfide excretion.Arginine:glycine amidinotransferase deficiencyRare genetic disorder causing creatine deficiency in brain and muscle.Aromatic L-amino acid decarboxylase deficiencyRare genetic disorder impairing dopamine and serotonin synthesis.Arthrogryposis multiplex with deafness, inguinal hernias, and early deathRare arthrogryposis syndrome with deafness, hernias, and early death.Atelosteogenesis type IRare autosomal dominant skeletal disorder with poor prognosis.Autophagic vacuolar myopathyRare genetic disorders causing progressive muscle weakness via autophagic buildup.Autosomal dominant cerebellar ataxia, deafness, and narcolepsyRare genetic disorder causing ataxia, deafness, narcolepsy, and dementia.Autosomal dominant CTLA‐4 haploinsufficiency with autoimmune infiltrationRare genetic disorder of immune regulation from CTLA-4 haploinsufficiency.Autosomal dominant partial epilepsy with auditory featuresRare hereditary epilepsy with auditory symptoms and aphasia.Autosomal dominant porencephaly type IRare genetic disorder causing brain cysts and vascular damage.Autosomal recessive axonal neuropathy with neuromyotoniaRare hereditary disorder with progressive neuropathy and neuromyotonia.Bachmann–Bupp syndromeRare genetic disorder from ODC1 mutations causing alopecia and developmental delays.Benign hereditary choreaRare non-progressive chorea linked to TITF1 mutation.Bent bone dysplasia syndromeRare skeletal dysplasia with bowed bones and often lethal outcome.Bifid noseA rare congenital cleft between the nostrils.Bilateral frontoparietal polymicrogyriaGenetic disorder causing excessive small brain folds from GPR56 mutations.Biotin-thiamine-responsive basal ganglia diseaseRare treatable disorder affecting basal ganglia, responsive to thiamine and biotin.Blue-cone monochromacyInherited eye disease causing severe color blindness and photophobia.Branched-chain keto acid dehydrogenase kinase deficiencyA genetic disorder causing low BCAA levels and neurodevelopmental deficits.Brody myopathyRare disorder impairing muscle relaxation after exercise.
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