Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy... |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect, Abnormal heart morphology |
ORPHA:798 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |