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Disease Profile
ZTTK 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.
#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)
Zhu-Tokita-Takenouchi-Kim syndrome; Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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 | ||
| Global |
0001263 | |
| 30%-79% of people have these symptoms | ||
| Autistic behavior | 0000729 | |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Proportionate |
0003508 | |
| 5%-29% of people have these symptoms | ||
| Abnormal common carotid artery morphology |
Abnormality of the common carotid artery
|
0430021 |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Absent gallbladder | 0011467 | |
| Absent thumb |
Absent thumbs
|
0009777 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
| Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
| Arnold-Chiari malformation | 0002308 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Auditory hallucinations |
Hallucinations of sound
Hearing sounds
[ more ] |
0008765 |
| Bifid uvula | 0000193 | |
| Bilateral renal dysplasia | 0012582 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Broad lateral eyebrow | 0007933 | |
| Cerebellar hemisphere hypoplasia | 0100307 | |
| Cerebral visual impairment | 0100704 | |
| Cervical ribs | 0000891 | |
| Chronic diarrhea | 0002028 | |
| Curly hair | 0002212 | |
| Decreased circulating IgG level | 0004315 | |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
| Dilation of lateral ventricles | 0006956 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Dysplastic corpus callosum | 0006989 | |
| Emphysema | 0002097 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
| Fetal distress | 0025116 | |
| Frontal bossing | 0002007 | |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
| Gastrointestinal dysmotility | 0002579 | |
| Gastroparesis |
Delayed gastric emptying
|
0002578 |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Generalized non-motor (absence) |
Brief seizures with staring spells
|
0002121 |
| Global brain atrophy |
Generalized brain degeneration
|
0002283 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hyperextensibility at elbow | 0010485 | |
| Hyperextensible hand joints | 0005639 | |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
| Ischemic stroke | 0002140 | |
| Kyphoscoliosis | 0002751 | |
| Low-set ears |
Low set ears
Lowset ears
[
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. Rare Pulmonology News | |