congenital myasthenic syndrome 21
congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11
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congenital myasthenic syndrome 21
Summary
congenital myasthenic syndrome 21 is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 21's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 21's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 21 is a type of congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 21 is a type of genetic disease[5].
- congenital myasthenic syndrome 21 is a type of autosomal recessive disease[6].
- congenital myasthenic syndrome 21's genetic association is recorded as SLC18A3[7].
- congenital myasthenic syndrome 21's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110672[8].
- congenital myasthenic syndrome 21's exact match is recorded as http://identifiers.org/doid/DOID:0110672[9].
- congenital myasthenic syndrome 21's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].