MYASTHENIC SYNDROME, CONGENITAL, 16

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614198
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
2
(HPO:0000544) External ophthalmoplegia 40 / 7739
3
(HPO:0000508) Ptosis 459 / 7739
4
(HPO:0001288) Gait disturbance 318 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0003473) Fatigable weakness 39 / 7739
7
(HPO:0003388) Easy fatigability 34 / 7739
8
(HPO:0003307) Hyperlordosis rare [HPO:skoehler] 122 / 7739
9
(HPO:0002104) Apnea rare [HPO:skoehler] 106 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsujino et al. (2003) studied a patient with a myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involved lid-elevator, external ocular, facial, limb, and truncal muscles, ...
Molecular genetics OMIM Tsujino et al. (2003) detected compound heterozygosity for 2 mutations in the SCN4A gene involving conserved residues not present in 400 normal alleles: a ser246-to-leu (S246L) change in the S4/S5 cytoplasmic linker in domain I, and a val1442-to-glu ...