MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: infantile epilepsy syndrome (MONDO:0020071)
..Starting node ..infantile spasms-broad thumbs syndrome ()
Child Nodes:
Sister Nodes:
..benign partial infantile seizures ()
..early infantile epileptic encephalopathy without suppression burst ()
..generalized epilepsy with febrile seizures plus ()
..idiopathic hemiconvulsion-hemiplegia syndrome ()
..infant epilepsy with migrant focal crisis ()
..infantile neuronal ceroid lipofuscinosis ()
..infantile spasms-broad thumbs syndrome ()
..infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ()
..myoclonic epilepsy in non-progressive encephalopathies ()
..progressive myoclonic epilepsy with dystonia ()
..undetermined early-onset epileptic encephalopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17852
Name:	infantile spasms-broad thumbs syndrome
Definition:	Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
Alternative IDs:
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Synonyms:	infantile spasms broad thumbs; Tsao Ellingson syndrome; Tsao-Ellingson syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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