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 | ||
| 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 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the columella | 0009929 | |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Chronic constipation |
Infrequent bowel movements
|
0012450 |
| 0000776 | ||
| 0001363 | ||
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Diastema |
Gap between teeth
|
0000699 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperactivity |
More active than typical
|
0000752 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ]
|
0000527 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Motor delay | 0001270 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short philtrum | 0000322 | |
| Simplified gyral pattern | 0009879 | |
| Single transverse palmar crease | 0000954 | |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Unsteady gait |
Unsteady walk
|
0002317 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| Asymmetric crying face | 0011333 | |
| 0000753 | ||
| Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cutis marmorata | 0000965 | |
| Drooling |
Dribbling
|
0002307 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| High forehead | 0000348 | |
| Horizontal eyebrow |
Flat eyebrow
Straight eyebrow
[ more ]
|
0011228 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
| Impaired visuospatial constructive cognition | 0010794 | |
| Inguinal hernia | 0000023 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
| Mutism |
Inability to speak
Muteness
[ more ]
|
0002300 |
| Obesity |
Having too much body fat
|
0001513 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Patent ductus arteriosus | 0001643 | |
| Polyphagia |
Voracious appetite
|
0002591 |
| 0001250 | ||
| Short lingual frenulum | 0000200 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
| Sparse anterior scalp hair |
Sparse scalp hair at front of head
Thin scalp hair at front of head
[ more ]
|
0004768 |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
| 1%-4% of people have these symptoms | ||
| Abnormality of the optic disc | 0012795 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Aplasia/Hypoplasia of the fallopian tube |
Absent/small fallopian tube
Absent/underdeveloped fallopian tube
[ more ]
|
0008655 |
| Aplasia/hypoplasia of the uterus |
Absent/small uterus
Absent/underdeveloped uterus
[ more ]
|
0008684 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 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 |
| Cafe-au-lait spot | 0000957 | |
| Collectionism |
Compulsive hoarding
|
0030212 |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Enuresis | 0000805 | |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hydronephrosis | 0000126 | |
| Hypospadias | 0000047 | |
| Impaired smooth pursuit | 0007772 | |
| Long fingers | 0100807 | |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Short neck |
Decreased length of neck
|
0000470 |
| Tracheomalacia |
Floppy windpipe
|
0002779 |
| Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| Autistic behavior | 0000729 | |
| 0000006 | ||
| Cerebellar vermis hypoplasia | 0001320 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Global |
0001263 | |
| Growth |
0000824 | |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
