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Items: 4

1.

COG8-congenital disorder of glycosylation

Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus. [from SNOMEDCT_US]

MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
2.

Progressive myoclonic epilepsy type 9

Progressive myoclonic epilepsy-9 (EPM9) is an autosomal recessive disorder characterized by onset of myoclonic seizures between 6 and 7 years of age, with progression to falling and tonic-clonic seizures, severe action myoclonus, and neurologic decline. Diffuse muscle wasting and loss of subcutaneous fat are present (Damiano et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

MedGen UID:
901242
Concept ID:
C4225289
Disease or Syndrome
3.

Myoclonus, familial, 1

Familial myoclonus-1 (MYOCL1) is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13. [from OMIM]

MedGen UID:
761667
Concept ID:
C3539916
Disease or Syndrome
4.

Progressive myoclonic epilepsy type 8

Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by Godeiro et al., 2018). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

MedGen UID:
1680582
Concept ID:
C5190825
Disease or Syndrome

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