Presentation
Torticollis Wry neck 0000473 Visual loss Loss of vision Vision loss [ more ] 0000572 Percent of people who have these symptoms is not available through HPO Agenesis of corpus callosum 0001274 Autosomal dominant inheritance 0000006 Congenital onset Symptoms present [rarediseases.info.nih.gov]
Ears
- Hearing Impairment
[…] mastication Chewing difficulties Chewing difficulty Difficulty chewing [ more ] 0005216 Impaired social interactions Impaired social interaction Poor social interactions [ more ] 0000735 Insomnia Difficulty staying or falling asleep 0100785 Joint laxity [rarediseases.info.nih.gov]
- Low Set Ears
ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Metatarsus adductus Front half of foot turns inward 0001840 Micrognathia Little lower jaw Small jaw Small lower jaw [rarediseases.info.nih.gov]
Musculoskeletal
- Small Hand
Seizure 0001250 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Short foot Short feet Small feet [ more ] 0001773 Small basal ganglia 0012697 Small hand Disproportionately small hands 0200055 Spastic diplegia 0001264 [rarediseases.info.nih.gov]
- Torticollis
0001773 Small basal ganglia 0012697 Small hand Disproportionately small hands 0200055 Spastic diplegia 0001264 Spastic tetraplegia 0002510 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Thoracic scoliosis 0002943 Torticollis [rarediseases.info.nih.gov]
- Genu Valgum
[…] the eyelids 0000494 Dysarthria Difficulty articulating speech 0001260 Dysgenesis of the hippocampus 0025101 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Flat occiput 0005469 Focal-onset seizure Seizure affecting one half of brain 0007359 Genu [rarediseases.info.nih.gov]
Neurologic
- Global Developmental Delay
[…] as children 0008897 Severe global developmental delay 0011344 Simplified gyral pattern 0009879 Spastic ataxia 0002497 Type II lissencephaly 0007260 5%-29% of people have these symptoms Abnormal autonomic nervous system physiology 0012332 Abnormal best [rarediseases.info.nih.gov]
- Dysarthria
0001491 Congenital microcephaly 0011451 Cubitus valgus Outward turned elbows 0002967 Delayed social development 0012434 Dilation of lateral ventricles 0006956 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Dysarthria [rarediseases.info.nih.gov]
- Nystagmus
[…] malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus [rarediseases.info.nih.gov]
- Apraxia
Large head circumference [ more ] 0000256 Metatarsus adductus Front half of foot turns inward 0001840 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Mood changes Moody 0001575 Normal pressure hydrocephalus 0002343 Oculomotor apraxia [rarediseases.info.nih.gov]
Treatment
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. [rarediseases.info.nih.gov]