Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Guerrini R et al. (1998) Cortical reflex myoclonus in Rett syndrome.
Wan M et al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Villard L et al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.
Hoffbuhr K et al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Geerdink N et al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
Leuzzi V et al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
None (2007) MECP2 mutations in males.
Schanen NC et al. (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
Schanen NC et al. (1998) Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Zeev BB et al. (2002) Rett syndrome: clinical manifestations in males with MECP2 mutations.
Kankirawatana P et al. (2006) Early progressive encephalopathy in boys and MECP2 mutations.
Schüle B et al. (2008) Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
OMIM.ORG articleOmim 300673
Orphanet articleOrphanet ID 209370