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Disease Profile
Chromosome 19q13.11 deletion syndrome
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.
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Age of onset
Infancy
ICD-10
Q93.5
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
Cachexia |
Wasting syndrome
|
0004326 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
30%-79% of people have these symptoms | ||
Broad columella | 0010761 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dry skin | 0000958 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Finger |
0006101 | |
High forehead | 0000348 | |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Sparse hair | 0008070 | |
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
Sparse or absent eyelashes | 0200102 | |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Thin skin | 0000963 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Toe clinodactyly | 0001863 | |
Toe syndactyly |
Fused toes
Webbed toes
[ more ] |
0001770 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
5%-29% of people have these symptoms | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Dislocated hip since birth
|
0001374 | |
Febrile |
Fever induced seizures
|
0002373 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Single median maxillary incisor |
Only one upper front tooth
|
0006315 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal cardiac septum morphology | 0001671 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Feeding difficulties in infancy | 0008872 | |
Global |
0001263 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Inguinal hernia | 0000023 | |
Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ] |
0000637 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macrotia |
Large ears
|
0000400 |
Li
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Neurology News |