Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart; Nedbeh
Description
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).
Genes related to Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart; Nedbeh
- RERE
Clinical Features
Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart; Nedbeh
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
- Micrognathia
- Strabismus
- Cryptorchidism
- Low-set ears
- Feeding difficulties
And another 27 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 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 Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4