Additional Disease Briefs

fatal infantile hypertonic myofibrillar myopathy

Also known as: MFM, fatal infantile hypertonic, alpha-B crystallin-related, alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy, fatal infantile hypertonic myofibrillar myopathy, myofibrillar myopathy type 7, myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Also known as: COXPD3, TSFM combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 3, combined oxidative phosphorylation deficiency caused by mutation in TSFM, combined oxidative phosphorylation deficiency type 3, concentric cardiomyopathy, hypotonia, and lactic acidosis, encephalomyopathy, respiratory failure, and lactic acidosis, fatal mitochondrial disease due to COXPD3

fatal post-viral neurodegenerative disorder

fatty acid hydroxylase-associated neurodegeneration

Also known as: FAHN

fatty acyl-CoA reductase 1 deficiency

Also known as: FAR1 deficiency, PFCRD, fatty acyl-CoA reductase 1 deficiency, fatty acyl-CoA reductase 1 disorder, fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency, peroxisomal fatty acyl-CoA reductase 1 disorder, rhizomelic chondrodysplasia punctata type 4, severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency, severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency, severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

febrile seizures, familial, 11

Also known as: FEB11, convulsions, familial febrile, 11, febrile seizures, familial, 11

febrile seizures, familial, 8

Also known as: ECA2, GABRG2 childhood absence epilepsy, GABRG2 generalised epilepsy with febrile seizures plus, GABRG2 generalized epilepsy with febrile seizures plus, GEFSP3, Gefs+, type 3, childhood absence epilepsy caused by mutation in GABRG2, epilepsy, childhood absence, susceptibility to, 2, epilepsy, childhood absence, susceptibility to, type 2, generalised epilepsy with febrile seizures plus caused by mutation in GABRG2, generalised epilepsy with febrile seizures plus, type 3, generalized epilepsy with febrile seizures plus caused by mutation in GABRG2, generalized epilepsy with febrile seizures plus, type 3, susceptibility to childhood absence epilepsy 2

Feingold syndrome

Also known as: Brunner-Winter syndrome, FGLDS, FS, MMT, MODED syndrome, ODED syndrome, digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum, digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum, microcephaly-digital anomalies-normal intelligence syndrome, microcephaly-intellectual disability-tracheoesophageal fistula syndrome, microcephaly-oculo-digito-esophageal-duodenal syndrome, microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome, oculo-digito-esophageal-duodenal syndrome