Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21
Genes related to Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21
Clinical FeaturesTop most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21
- Generalized hypotonia
- Muscle weakness
- Flexion contracture
- Feeding difficulties
- Respiratory insufficiency
- Difficulty walking
- Facial palsy
And another 4 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Congenital Contractures Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)
View the complete list with 37 more genes
By Fulgent Genetics Fulgent Genetics (United States).
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
SCN4A, SLC18A3, SYT2, SLC5A7, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, GMPPB, ALG2, DOK7, ALG14, DPAGT1, AGRN, GFPT1, LAMC1, LRP4 , (...)
View the complete list with 3 more genes
You can get up to -5 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 JACOBSEN SYNDROME; JBS GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS MUSCLE-EYE-BRAIN DISEASE ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 8P23.1 MICRODELETION SYNDROME