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Disease Profile
Neurodevelopmental disorder with severe motor impairment and absent language
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NEDMIAL; DHX30-Related neurodevelopmental disorder; DHX30-Related disorder
Summary
Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) is a rare condition caused by a change in the DexH-box helicase 30 (DHX30)
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
1%-4% of people have these symptoms | ||
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
0001251 | ||
0000006 | ||
Bruxism |
Teeth grinding
|
0003763 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Chorea | 0002072 | |
Delayed ability to walk | 0031936 | |
Delayed myelination | 0012448 | |
0001332 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Inability to walk | 0002540 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Ventriculomegaly | 0002119 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the DHX30 Related disorders / DHX30 Mutations group on Facebook.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Selected Full-Text Journal Articles
- Lessel D, Schob C, Küry S, Reijnders MRF et al., De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 2;101(5):716-724.
References
- Neurodevelopmental disorder with severe motor impairment and absent language; NEDMIAL. OMIM. December 9, 2017; https://www.omim.org/entry/617804. Accessed 9/12/2018.
- Lessel, D., Schob, C., Kury, S., Reijnders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., and 32 others.. De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder. Am. J. Hum. Genet. 2017; 101:716-724. Accessed 9/12/2018.