Presentation
Entire Body System
- Developmental Delay
Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of [igenomix.es]
- Movement Disorder
With Involuntary Movements AD 100 47 of 47 GOSR2 Progressive Myoclonic Epilepsy AR 88.39 6 of 6 GRIN1 Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures AD,AR 100 43 of 43 GRIN2A Focal Epilepsy, With Speech Disorder And With [igenomix.es]
- Disability
99.96 2 of 2 OCLN Pseudo-Torch Syndrome, Congenital Intrauterine Infection-like Syndrome AR 86.89 15 of 17 PACS1 Autosomal Dominant Mental Retardation, Intellectual Disability- Craniofacial Dysmorphism- Cryptorchidism Syndrome AD 97.98 3 of 3 PCDH19 [igenomix.es]
Neurologic
- Involuntary Movements
Movements AD 100 47 of 47 GOSR2 Progressive Myoclonic Epilepsy AR 88.39 6 of 6 GRIN1 Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures AD,AR 100 43 of 43 GRIN2A Focal Epilepsy, With Speech Disorder And With Or Without Mental [igenomix.es]
- Stereotypic Hand Movements
Hand Movements Syndrome, Smith-Magenis Syndrome X,XR,XD,G 99.73 NA of NA KANSL1 Koolen-de Vries Syndrome AD 96.03 22 of 27 KCNA2 Early Infantile Epileptic Encephalopathy AD 99.86 23 of 23 KCNC1 Progressive Myoclonic Epilepsy AD 99.87 10 of 10 KCNMA1 [igenomix.es]
- Ataxia
[…] enfermedades GENE OMIM DISEASES INHERITANCE* % GENE COVERAGE (20X) HGMD** ADSL Adenylosuccinase Deficiency AR 100 59 of 59 ALDH5A1 Succinic Semialdehyde Dehydrogenase Deficiency AR 95.41 65 of 69 ATP1A3 Alternating Hemiplegia Of Childhood, Cerebellar Ataxia [igenomix.es]
- Apraxia
Encephalopathy AD 95.98 64 of 64 KCTD7 Progressive Myoclonic Epilepsy With Or Without Intracellular Inclusions AR 99.99 40 of 40 KDM6A Kabuki Syndrome AD,X,XD,G 99.98 NA of NA LAMA1 Poretti-Boltshauser Syndrome, Ataxia-Intellectual Disability- Oculomotor Apraxia [igenomix.es]
- Speech Disorder
With Involuntary Movements AD 100 47 of 47 GOSR2 Progressive Myoclonic Epilepsy AR 88.39 6 of 6 GRIN1 Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures AD,AR 100 43 of 43 GRIN2A Focal Epilepsy, With Speech Disorder And With [igenomix.es]