... broad and overlapping phenotypes that range from fatal neonatal-onset disease to mild late-onset disease with myopathy and ... ATP7A Menkes disease (See ATP7A -Related Copper Transport Disorders .) XL Neonatal-onset progressive encephalopathy w/refractory seizures Usually present ...

... and gestational alloimmune liver disease (formerly known as neonatal hemochromatosis). Acquired disorders to consider include chronic viral hepatitis, alcoholic and ...

... Occipital horn syndrome (See ATP7A -Related Copper Transport Disorders .) Neonatal + 3 NR + + NR NR + NR NR NR ZC4H2 ... NR + + ‒ TRPV4 Scapuloperoneal SMA (See Autosomal Dominant TRPV4 Disorders .) Neonatal NR NR + + Delayed motor development + + + NR NR AR ...

... series, but have become established as KCNQ2 -related disorders. Neonatal encephalopathy with non-epileptic myoclonus Profound encephalopathy at ... of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy Behav Case Rep. 2013; 1 :35– ...

... PDSS2 -related CoQ 10 deficiency. Individuals with severe neonatal-onset disease responded poorly to supplementation with high-dose oral ... A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary ... form of mitochondrial disease. Am J Hum Genet. 2009;84:558-66. [ ...

... 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients. Neuropediatrics. 2018; ...

... exon 2 of WARS2 had a severe fatal neonatal form of disease that might also be explained by the presence ... ganglia in brain imaging MECP2 MECP2 -related severe neonatal encephalopathy (See MECP2 Disorders .) XL ID, seizures, rigidity, muscle hypotonia, microcephaly Early ...

... condition is inherited in an autosomal recessive manner. Neonatal diabetes mellitus and congenital heart disease caused by pathogenic variants in GATA6 (OMIM 600001 ). ...

... Biallelic pathogenic variants in HEXA are causative. Canavan disease . Neonatal/infantile (severe) Canavan disease is characterized by evidence of developmental delays by ...