Mental Retardation, Autosomal Dominant 46; Mrd46
Table of contents:
Genes related to Mental Retardation, Autosomal Dominant 46; Mrd46
- KCNQ5
Clinical Features
Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 46; Mrd46
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Spasticity
- Cerebral atrophy
- Absent speech
- Encephalopathy
- Gait ataxia
- Muscular hypotonia of the trunk
And another 4 symptoms. If you need more information about this disease we can help you.
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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 researchers
Currently, 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.Sources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like YOU-HOOVER-FONG SYNDROME; YHFS PACHYONYCHIA CONGENITA 3; PC3 PITUITARY APOPLEXY GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD IMMUNODEFICIENCY 46; IMD46 AROMATASE DEFICIENCY