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 | ||
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Megalencephaly | 0001355 | |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Curly hair | 0002212 | |
| Focal-onset |
Seizure affecting one half of brain
|
0007359 |
| Frontal bossing | 0002007 | |
| Generalized-onset seizure | 0002197 | |
| Global |
0001263 | |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Specific learning disability | 0001328 | |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Abnormal |
0001273 | |
| Asthma | 0002099 | |
| Autistic behavior | 0000729 | |
| Cafe-au-lait spot | 0000957 | |
| Capillary malformation | 0025104 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Hemangioma |
Strawberry mark
|
0001028 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
| Lactose intolerance |
Milk intolerance
|
0004789 |
| Long philtrum | 0000343 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thoracic hypoplasia |
Small chest
Small thorax
[ more ]
|
0005257 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 1%-4% of people have these symptoms | ||
| Allergy | 0012393 | |
| Decreased circulating IgA level | 0002720 | |
| 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 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hypospadias | 0000047 | |
| Intestinal polyp | 0005266 | |
| Neonatal |
Low blood sugar in newborn
|
0001998 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Deep palmar crease |
Deep palm line
|
0006191 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hemimegalencephaly | 0007206 | |
| High forehead | 0000348 | |
| Hypoglycemia |
Low blood sugar
|
0001943 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Perisylvian polymicrogyria | 0012650 | |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Seizure | 0001250 | |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short proximal phalanx of finger |
Short innermost finger bones
|
0010241 |
| Smooth philtrum | 0000319 | |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
|
Low platelet count
|
0001873 | |
| Umbilical hernia | 0001537 | |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
