Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... |
OMIM:618097 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Short stature, Abnormal heart morphology, Small thenar eminence, Neonatal death |
OMIM:613390 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Branchial anomaly, Ventric... |
ORPHA:1296 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Growth delay, Chromosomal breakage induced by ionizing radiation, Short stature |
OMIM:613078 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... |
OMIM:609054 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Telangiectasia |
OMIM:181750 |
Immunodeficiency 54 |
|
Postnatal growth retardation, Chromosome breakage, Short stature, Intrauterine growth retardation |
OMIM:609981 |
Fanconi Anemia, Complementation Group Q |
|
Growth delay, Chromosome breakage, Short stature, Primum atrial septal defect |
OMIM:615272 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Fanconi Anemia, Complementation Group D1 |
|
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Mitral valve prolapse |
OMIM:300624 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Mitral valve prolapse |
ORPHA:908 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... |
ORPHA:60041 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:609053 |
Fanconi Anemia, Complementation Group T |
|
Short stature, Facial palsy, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Radial-Renal Syndrome |
|
Chromosome breakage, Short stature |
OMIM:179280 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Ventricular septal defect, Chromosomal breakage induced by crosslin... |
OMIM:610832 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral... |
ORPHA:1131 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Short stature |
OMIM:617883 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... |
OMIM:615583 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Abnormality of chromosome stability |
OMIM:614082 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Calf mus... |
ORPHA:370959 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Telangiectasia of the skin, Short s... |
ORPHA:100 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Ankle flexion contracture, Cryptorchidism, Knee flexion contracture, Severe postn... |
ORPHA:435938 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal ... |
OMIM:617751 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Atrial septal defect, Intrauterine growth retardation, Chromosomal... |
OMIM:603467 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Abnormal heart morphology, Deficient excision of UV-induced pyrimidine dimers in D... |
OMIM:600901 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Short stature, Flexion contracture, Deficient excision of UV-induced p... |
OMIM:227645 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents, Petechiae, Intrauterine growth retardation |
OMIM:620133 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Abnormal heart morphology, Deficient excision of UV-induced pyrimidine dimers in D... |
OMIM:227650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Foot dorsiflexor weakness, Cerebellar vermis atrophy |
OMIM:619054 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Growth de... |
OMIM:210900 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Fanconi Anemia, Complementation Group U |
|
Growth delay, Chromosome breakage, Unilateral facial palsy |
OMIM:617247 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Abnormal spinal c... |
ORPHA:99947 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Patent ductus arteriosus, Hydrocephalus,... |
OMIM:220220 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Hydrocephalus, Growth delay, Intrauterine growth retardation, Chromosomal br... |
OMIM:614083 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Short stature, Intrauterine growth retardation |
OMIM:617052 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Retrocerebellar cyst, Inferior cereb... |
OMIM:614831 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Ventricular septal defect, Hydrocephalus, Growth delay, Intr... |
OMIM:300514 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Deficient excision of UV-induced pyrimid... |
OMIM:227646 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Short stature, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:213200 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Fanconi Anemia, Complementation Group P |
|
Growth delay, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of chromosome stability, Short stature, Macroglossia, Um... |
ORPHA:2268 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia |
OMIM:615771 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:352665 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Telangiectasia, Chromoso... |
ORPHA:420741 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Contractures of the large joints, Lateral ve... |
ORPHA:3078 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent duc... |
ORPHA:261337 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Camptodact... |
OMIM:614175 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Short stature, Growth dela... |
ORPHA:261330 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Cerebellar vermis atrophy |
ORPHA:1170 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Postnatal growth retardation, Cerebellar ... |
ORPHA:357058 |
Meningioma |
|
Facial palsy, Cerebral hemorrhage, Hydrocephalus, Upper limb muscle weakness, Syncope, Chromosoma... |
ORPHA:2495 |
Lig4 Syndrome |
|
Growth delay, Abnormality of chromosome stability, Telangiectasia of the skin |
ORPHA:99812 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature |
ORPHA:251347 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Skeletal muscle atrophy, Dorsal column degeneration, Spinocerebellar at... |
OMIM:164400 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Dilated fourth ventricle, Cerebellar atrophy, Skeletal mu... |
ORPHA:276244 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Rhizomelia, Heart block, Aplasia/Hypoplasia of the abdominal... |
ORPHA:175 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Congenital diaphragmatic h... |
OMIM:619648 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology, Distal amyotrophy |
ORPHA:139578 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly, Ventriculomegaly |
ORPHA:466950 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cardiomyopathy, Later... |
ORPHA:572798 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Distal amyotrophy, Spinocerebellar tract degenerati... |
OMIM:183090 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... |
ORPHA:276241 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Short stature, Spina bifida, Hydrocephalus, Growth delay, In... |
ORPHA:84 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Facial palsy, Hydrocele testis, Atrial septal defect,... |
OMIM:620186 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Distal amyotrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration |
OMIM:109150 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Diaphragmatic eventration, Cerebellar vermis hypoplasia, Hypoplasia of ... |
OMIM:615574 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... |
ORPHA:508488 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Total anomalous p... |
ORPHA:261183 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventriculomegaly |
ORPHA:171680 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Cryptorchidism |
ORPHA:861 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Elongat... |
OMIM:610688 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
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 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Ventriculomegaly, Camptodactyly o... |
OMIM:249000 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Facial palsy, Short neck, Postnatal growth retardation, Cryptorchi... |
OMIM:113620 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Olivopo... |
OMIM:212065 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... |
OMIM:618280 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Long neck, Abnormal spinal cord morphology, Cryptorchidism, Dysplastic... |
ORPHA:1724 |
Revesz Syndrome |
|
Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:268130 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Flexion contra... |
OMIM:619306 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Unilateral cryptorchidism, Short stature, Congenital diaphragmatic hernia, Con... |
OMIM:613406 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Short stature, Hypoplasia of the pons, Postnatal growth retardation, Ce... |
OMIM:300749 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Short stature, Rhabdomyosarcoma |
ORPHA:647 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Acute Disseminated Encephalomyelitis |
|
Nuchal rigidity, Abnormal spinal cord morphology, Abnormal cerebellum morphology, Myelitis |
ORPHA:83597 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Patent ductus arteriosus, ... |
OMIM:619869 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... |
OMIM:164210 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Facial myokymia, Hamstring contractures |
ORPHA:139396 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Stiff neck, Abnormal medulla oblongata morphology, Facial palsy, Abnormal ce... |
ORPHA:68 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
Tetrasomy 9P |
|
Pericarditis, Myositis, Dextrocardia, Short neck, Cryptorchidism, Abnormal spinal cord morphology... |
ORPHA:3310 |
Superficial Siderosis |
|
Cerebellar atrophy, Enlarged sylvian cistern, Atrophy of the spinal cord, Abnormal spinal cord mo... |
ORPHA:247245 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent... |
ORPHA:434179 |
Adrenomyeloneuropathy |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Leg musc... |
ORPHA:139399 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Growth del... |
OMIM:243910 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, Aplasia/... |
ORPHA:480880 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Primary Sjögren Syndrome |
|
Abnormal cerebellum morphology, Abnormal spinal cord morphology, Myositis |
ORPHA:289390 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |