Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Miscarriage, Infertility |
OMIM:136580 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Small for gestational age |
OMIM:300076 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Failure to thrive |
OMIM:242500 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Joint contracture, Exaggerated startle response |
OMIM:616881 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Joint contracture, Exaggerated startle response |
OMIM:617864 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Depression, Dysphagia, Limited knee extension, Ma... |
ORPHA:845 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... |
ORPHA:521426 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Exaggerated startle response, Dysphagia |
OMIM:617527 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture |
OMIM:253800 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Dystonia, Osteoporosis, Dysphagia, Stereo... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia, Abnormal repet... |
OMIM:619522 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Joint hypermobility, Attention deficit hyperactivity disorder |
OMIM:619243 |