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Gene: Prdm8 MGI:1924880

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Gene Summary

Name:
PR domain containing 8
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Prdm8em1(IMPC)Wtsi HOM   Early adult 3.70×10-07
hyperactivity Prdm8em1(IMPC)Wtsi HOM Early adult 4.89×10-09
increased lung elastance Prdm8em1(IMPC)Wtsi HOM   Early adult 8.90×10-05
abnormal heart morphology Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
abnormal uterus morphology Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
increased heart rate Prdm8em1(IMPC)Wtsi HOM   Early adult 3.74×10-05
abnormal thymus morphology Prdm8em1(IMPC)Wtsi HET Early adult 0.00
impaired glucose tolerance Prdm8em1(IMPC)Wtsi HOM Early adult 4.53×10-07
increased freezing behavior Prdm8em1(IMPC)Wtsi HOM Early adult 7.72×10-08
enlarged thymus Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
enlarged uterus Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
abnormal thymus morphology Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
abnormal heart left ventricle morphology Prdm8em1(IMPC)Wtsi HOM   Early adult 9.41×10-06
abnormal inspiratory capacity Prdm8em1(IMPC)Wtsi HOM   Early adult 2.90×10-06
increased circulating sodium level Prdm8em1(IMPC)Wtsi HOM Early adult 5.28×10-09
increased prepulse inhibition Prdm8em1(IMPC)Wtsi HET   Early adult 8.54×10-05
abnormal spleen morphology Prdm8em1(IMPC)Wtsi HET Early adult 0.00
enlarged thymus Prdm8em1(IMPC)Wtsi HET Early adult 0.00
small spleen Prdm8em1(IMPC)Wtsi HET Early adult 0.00
abnormal tooth morphology Prdm8em1(IMPC)Wtsi HET Early adult 0.00
decreased body weight Prdm8em1(IMPC)Wtsi HOM Early adult 4.00×10-16
small heart Prdm8em1(IMPC)Wtsi HOM Early adult 0.00
increased anxiety-related response Prdm8em1(IMPC)Wtsi HOM   Early adult 2.75×10-05
abnormal skin morphology Prdm8em1(IMPC)Wtsi HET Early adult 0.00
increased airway resistance Prdm8em1(IMPC)Wtsi HET   Early adult 7.76×10-06
abnormal retina morphology Prdm8em1(IMPC)Wtsi HOM Early adult 3.53×10-06
abnormal seminal vesicle morphology Prdm8em1(IMPC)Wtsi HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

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XRay Images Skull Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Forepaw

31 Images

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X-ray

XRay Images Hind Leg and Hip

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XRay Images Whole Body Lateral Orientation

32 Images

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Human diseases caused by Prdm8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Prdm8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies OMIM:616640
Early-Onset Lafora Body Disease
Ataxia, Lafora bodies ORPHA:324290

The table below shows human diseases predicted to be associated to Prdm8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Atrioventricular val... ORPHA:3282
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... ORPHA:324575
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial agenesis of the corpus callos... OMIM:615771
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... ORPHA:276575
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissence... OMIM:611603
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased c... ORPHA:276556
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Aggressive behavior, Microcephaly, Simplified gyral pattern, Cerebral a... OMIM:618492
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Spinocerebellar Ataxia 23
Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Limb ataxia, Gai... OMIM:610245
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder... OMIM:618709
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... OMIM:618286
Lissencephaly, X-Linked, 1
Ataxia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration, Decreased body weight OMIM:616311
Neuropathy, Hereditary Sensory, Type Iic
Hypoesthesia, Impaired distal vibration sensation, Acral ulceration, Impaired distal proprioception OMIM:614213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Respiratory insufficiency, Cardiomyopathy, Dy... OMIM:255100
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Aspiration ... ORPHA:94093
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Depression,... ORPHA:79264
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Fasting h... ORPHA:276608
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum OMIM:605899
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plas... ORPHA:3008
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive ORPHA:178029
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, ... ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly, Dysphagia OMIM:619025
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... ORPHA:1344
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t... OMIM:619302
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia, Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Hypernatremia, Irritability OMIM:304800
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... ORPHA:860
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardia... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal repe... OMIM:617862
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern, Gait ataxia OMIM:616540
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... ORPHA:250972
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Necrotizing Enterocolitis
Hyponatremia, Shock, Apnea, Small for gestational age, Leukocytosis, Abnormal heart morphology, B... ORPHA:391673
Coproporphyria, Hereditary
Tachycardia, Splenomegaly, Depression, Hypertension, Respiratory paralysis OMIM:121300
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:85179
Pontocerebellar Hypoplasia, Type 11
Ataxia, Microcephaly, Hypoplasia of the pons, Limb ataxia, Self-injurious behavior, Agenesis of c... OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Aggressive behavior OMIM:619548
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:620200
Foxg1 Syndrome
Choreoathetosis, Agenesis of corpus callosum, Progressive microcephaly, Hypoplasia of the corpus ... ORPHA:561854
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ... OMIM:615282
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... OMIM:604360
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... ORPHA:100924
Nephrogenic Diabetes Insipidus
Anorexia, Hypovolemia, Hypernatremia, Polydipsia, Failure to thrive ORPHA:223
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Anorexia, Cachexia, Myocardial i... ORPHA:3452
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... ORPHA:263297
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a... OMIM:608636
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... OMIM:600649
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... OMIM:615751
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stimulation test, B... ORPHA:485405
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:616570
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
N-Acetylaspartate Deficiency
Microcephaly, Secondary microcephaly, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutila... OMIM:614063
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypertrophic cardiomyopathy OMIM:620270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Microcephaly, Chorea, Inappropriate laughter, Bruxism, Abnormal repe... OMIM:619150
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ... ORPHA:171680
Legionnaires Disease
Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Endocarditis, Lymphadeno... ORPHA:549
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... OMIM:304100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Microcephaly, Hydrocephalus, Simplified gyral pattern, Perive... OMIM:619470
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ... ORPHA:255138
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Ataxia, Neutropenia OMIM:616949
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... DECIPHER:39
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ... OMIM:615508
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... ORPHA:264675
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Ventricu... OMIM:601005
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... OMIM:613845
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Clitoral hypertrophy, Hypospadias, Neonatal hypoglycemia, Female external genitalia... ORPHA:90791
Microhydranencephaly
Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac... OMIM:605013
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Hypertension, Agitation, Atrial septal defect, Micropenis OMIM:613870
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Anorexia, Precocious puberty, Cryptorchidism, Hyperkalemia, T... ORPHA:361
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,... ORPHA:159
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Wheezing, Hyperkalemia, Weight loss, Hypovolemic shoc... ORPHA:171876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity, Micropenis ORPHA:75858
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum, Dry skin ORPHA:2101
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:618766
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly OMIM:620033
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Irritabilit... ORPHA:173
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia, Fused labia minora, Secundum atrial septal defect, Optic atrophy, Cli... OMIM:608688
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharyngeal ... OMIM:616878
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, ... ORPHA:199299
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Tachycardia, Ventricular septal defect, Tachypnea, Double ... ORPHA:3426
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Apnea, Hypoglycemia, Dyspnea, Irritability, Lethargy, Hyperventilation OMIM:229700
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc... OMIM:619151
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... OMIM:619737
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Weight loss, Hypokalemia, Palpitations, Goiter OMIM:188580
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Microcephaly, Agenesis of corpus callosum, Aggressive behavior OMIM:615286
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... OMIM:619381
Buerger Disease
Paresthesia, Skin ulcer ORPHA:36258
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum, Dysphagia OMIM:619083
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Glutathionuria
Dysdiadochokinesis, Agenesis of corpus callosum OMIM:231950
Colchicine Poisoning
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Congestive heart failure, Hypovole... ORPHA:31824
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired pain sensation, Dysesthesia, Impaired vibration sensation in the lower limbs, Skin ulcer... OMIM:613640
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Cryptorchidism, Hyperkale... ORPHA:97362
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Autosomal Recessive Primary Microcephaly
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Mirage Syndrome
Hyponatremia, Decreased body weight, Hypospadias, Hypergonadotropic hypogonadism, Hypoglycemia, C... OMIM:617053
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis o... OMIM:207950
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... ORPHA:368
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... OMIM:615095
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... ORPHA:101030
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... ORPHA:335
Cln3 Disease
Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depre... ORPHA:228346
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of... OMIM:617820
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Microphthalmia, Syndromic 12
Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uterus OMIM:615524
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to thrive OMIM:614736
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia ne... ORPHA:79243
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Dyspnea, Gait ataxia, Left ventricular hypertrophy, Crouch gait, Failure to thrive OMIM:620145
Leber Hereditary Optic Neuropathy
Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuo... ORPHA:104
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Cerebral atrophy, Gait ataxia, Self-injurious behavior, Progressive microcephaly, Compuls... OMIM:618917
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical... ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... OMIM:600118
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Male pseudoher... ORPHA:90790
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... ORPHA:1667
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Apnea, Hypoglycemia, Congestive heart failure, Decreased plasma free car... OMIM:619048
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male... ORPHA:168558
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu... ORPHA:556037
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Hypokalemia, Respiratory fail... ORPHA:330021
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Respiratory insufficiency due to muscle weakness, Dyspnea... ORPHA:178478
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male... ORPHA:289548
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia... OMIM:616819
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia, Depression ORPHA:163921
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Oligozoospermia, Right bundle br... OMIM:602668
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum, Ataxia, Dysmetria, Truncal ataxia OMIM:250620
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu... ORPHA:556030
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemi... ORPHA:348
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Gait ataxia, Abnormal repetitive mannerisms OMIM:609425
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Cerebral atrophy, Choreoathetosis, Basal ganglia cysts, Episodic ataxia, Agenesis o... OMIM:312170
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Agenesis of corpus callosum OMIM:610498
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Dyspha... OMIM:616276
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer, Impaired pain sensation ORPHA:139578
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Alg8-Cdg
Hyponatremia, Ataxia, Small for gestational age, Optic atrophy, Anemia, Failure to thrive, Retino... ORPHA:79325
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory insufficienc... ORPHA:79273
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irri... OMIM:618321
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Increased circulating thyroglobulin level, Small for gestational age,... OMIM:609152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss, Tachycardia, Goiter OMIM:613239
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia OMIM:240200
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Variegate Porphyria
Tachycardia OMIM:176200
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Cardiomegaly, Atrioventricular block, Left bundle branch block, Endocardia... ORPHA:75565
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Leukoenceph... OMIM:619244
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal... ORPHA:89844
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microce... OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Failure to thrive OMIM:620157
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... OMIM:614702
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walk... OMIM:164180
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Ataxia, Microcephaly OMIM:245349
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Thin corpus callosum, Cerebral atrophy OMIM:619690
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Nonprogressive cerebellar ataxia, Primary microcephal... ORPHA:466688
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Bicornuate uterus, Abnormality ... ORPHA:2143
Hydroxykynureninuria
Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Hypotension,... ORPHA:79155
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... ORPHA:3299
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Dyspnea, Depression... ORPHA:36913
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Elevated systolic blood pressure, Decrea... OMIM:300539
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Alobar holoprosencephaly OMIM:615433
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ... ORPHA:466677
Shigellosis
Hyponatremia, Failure to thrive in infancy, Pneumonia, Anorexia, Hypoglycemia, Myocarditis, Leuko... ORPHA:810
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o... ORPHA:168486
Aplasia Cutis Congenita
Skin ulcer, Spinal dysraphism ORPHA:1114
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso... OMIM:619320
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria OMIM:616342
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Leukopenia, Hypoalbuminemia, Atrial septal defect, Patent foramen ovale, Tr... ORPHA:505248
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos... OMIM:618603
Lissencephaly 6 With Microcephaly
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... OMIM:616212
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive OMIM:203400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Chilblain Lupus 1
Skin ulcer OMIM:610448
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis, Leukocytosis, Depression, Thrombocytopenia, Goiter ORPHA:83601
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem... ORPHA:95409
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171420
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Agenesis of corpus callosum, Cerebel... OMIM:619435
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618577
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S... ORPHA:500144
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... OMIM:610600
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin co... OMIM:235200
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Depression, Hypertension, Anemia OMIM:184850
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia, Hypotension OMIM:264350
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Penetrating foot ulcers, Skin ulcer, Distal s... ORPHA:36386
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Addison Disease
Hyponatremia, Normocytic anemia, Hypoparathyroidism, Salt craving, Primary testicular failure, Hy... ORPHA:85138
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy... ORPHA:99826
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, As... OMIM:612714
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-re... ORPHA:90051
Alg12-Cdg
Hyponatremia, Retinal detachment, Hypospadias, Cryptorchidism, Muscular ventricular septal defect... ORPHA:79324
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Hogue-Janssen Syndrome 2
Microcephaly, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus c... OMIM:616362
Adrenal Hypoplasia, Congenital
Hyponatremia, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia,... OMIM:300200
Rabin-Pappas Syndrome
Hyponatremia, Retinal detachment, Hypoventilation, Failure to thrive in infancy, Optic nerve hypo... OMIM:620155
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde... OMIM:614921
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive OMIM:177735
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... ORPHA:340
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com... OMIM:261600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly... OMIM:615249
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmona... ORPHA:2162
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Diethylstilbestrol Syndrome
Central apnea, Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive sy... ORPHA:1916
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co... OMIM:620316
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dyspn... OMIM:610505
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Cerebellar ... ORPHA:238750
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Decreased body weight, ... OMIM:300958
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the cor... ORPHA:300570
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Linear Skin Defects With Multiple Congenital Anomalies 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:300887
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Attention de... OMIM:619312
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Hyperkalemia, Cardiomyocyte mitocho... ORPHA:423
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Christianson Syndrome
Microcephaly, Dysphagia, Gait ataxia, Aplasia/Hypoplasia of the corpus callosum, Inappropriate la... ORPHA:85278
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Neonatal hypoglycemia, Ambiguous genitalia, female, Hyponatremia, Clitoral hy... ORPHA:90794
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Inappropriate behav... ORPHA:1446
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... OMIM:225790
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... ORPHA:427
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:182230
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,... OMIM:617669
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... ORPHA:95513
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Flynn-Aird Syndrome
Cerebral calcification, Ataxia, Impaired pain sensation, Skin ulcer, Cerebral cortical atrophy ORPHA:2047
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Choreoathetosis, Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Depression, Cardiomyopathy, Hypogonadism, Gait disturbance, Bradycardia, Dysph... OMIM:609286
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Gait ataxia, Glucose intolerance, Lethargy, A... ORPHA:254892
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tachycardia, Respiratory insufficiency, Depression, Hypertension, Pse... ORPHA:79276
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Reduced circulating prolactin concentration,... ORPHA:91355
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Baraitser-Winter Syndrome 2
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal... OMIM:219800
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia ORPHA:199296
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Graft Versus Host Disease
Tachycardia, Pneumonia, Lymphadenopathy, Hepatosplenomegaly, Irritability, Hemophagocytosis, Hype... ORPHA:39812
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia OMIM:615465
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mixed-Type Autoimmune Hemolytic Anemia
Exertional dyspnea, Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin ORPHA:90036
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... ORPHA:60041
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Optic atrophy, Hypertension, Hypokalem... OMIM:617913
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Elevated circulating creatine kinase concent... ORPHA:36234
Serotonin Syndrome
Restlessness, Tachycardia, Tachypnea, Hypertension, Irritability, Agitation, Hypotension ORPHA:43116
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ... ORPHA:572013
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Agenesis of corpus callosum, Microcephaly OMIM:619989
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central hyp... ORPHA:293987
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart... ORPHA:247353
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hematochezia, Hypoalbum... OMIM:618183
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circ... OMIM:263800
Graves Disease, Susceptibility To, 1
Hyperactivity, Congestive heart failure, Weight loss, Irritability, Polyphagia, Goiter OMIM:275000
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalcemia, ... OMIM:619991
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... OMIM:617600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Aggressive behavior, Hypoplasia of the brainstem, Progressive microcephaly, Hypoplasia of... ORPHA:481152
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Frontonasal Dysplasia 1
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... OMIM:136760
Adult Polyglucosan Body Disease
Ataxia, Skin ulcer, Distal sensory impairment ORPHA:206583
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Tachycardia, Apnea, Ventricular septal defect, Retinal hemorrhage,... OMIM:614653
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Microcephaly, Chorea, Attention deficit hyperactivity disorder, Abnormal periventricular ... OMIM:619725
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, T... ORPHA:71275
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Asplenia, Thrombocytopenia, Short philtrum, Hypoplastic spleen, A... OMIM:185070
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Respirator... ORPHA:79473
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Subvalvular a... OMIM:600430
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Microcephaly ORPHA:261519
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:218350
Classic Mycosis Fungoides
Erythema, Dry skin, Skin ulcer ORPHA:2584
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Gait ataxia, Hypoplasia of the uterus, Hypopla... OMIM:615300
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th... ORPHA:3157
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone s... ORPHA:293978
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:251056
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, Attention defici... OMIM:620141
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Microcephaly, Hydrocephalus, Lack of skin elasticity, Excessive wrinkled skin, Ag... OMIM:612940
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Gracile Bone Dysplasia
Asplenia, Micropenis, Ankyloglossia, Hypoplastic spleen OMIM:602361
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Bruxism, Cerebral atrophy, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive... ORPHA:209905
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... OMIM:613174
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand f... OMIM:300624
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly OMIM:618142
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Agenesis of corpus callosum ORPHA:521308
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Dracunculiasis
Skin ulcer ORPHA:231
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Ataxia, Hydrocephalus, Inappropriate laughter, Cerebellar hypoplasia, Hyp... OMIM:618476
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... OMIM:601186
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Secondary microcephaly, Hypoplasia ... OMIM:620073
Xq28 (MECP2) duplication
Microcephaly, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive mann... DECIPHER:45
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Glycosuri... ORPHA:411634
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer, Dandy-Walker malformation ORPHA:2218
Estrogen Resistance
Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco... OMIM:615363
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Hypertension, Gait dis... ORPHA:1764
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum, Stereotypical hand wringing, Bruxism OMIM:612337
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia ORPHA:220402
Lissencephaly, X-Linked, 2
Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Splenomegaly, Neonatal asphyxia, Congestive heart failure, Ne... ORPHA:525731
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... ORPHA:273
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus callosum ORPHA:85277
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... OMIM:214150
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Chylothorax, Thymus hyperplasia, Micrognathia OMIM:619036
Intellectual Developmental Disorder, Autosomal Recessive 65
Gait ataxia, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Aggressi... OMIM:618109
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Microcephaly ORPHA:261144
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphoria, Depression, Attenti... OMIM:620242
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Mitral valve prolapse, Depression, Self-in... ORPHA:449291
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal... ORPHA:228384
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy, Ina... OMIM:615802
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Immunodeficiency 49
Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume, Cutis laxa OMIM:617237
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati... OMIM:618775
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico... ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Free Sialic Acid Storage Disease
Athetosis, Ataxia, Skin ulcer ORPHA:834
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,... OMIM:608978
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98853
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age... OMIM:620352
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... ORPHA:275761
Pheochromocytoma
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171300
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Neonatal respiratory distress, Hyperactivity, First degree atrioventricular ... ORPHA:589821
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum... OMIM:617360
Temtamy Syndrome
Thick corpus callosum, Agenesis of corpus callosum, Self-mutilation OMIM:218340
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:607131
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Hypospadias, Cryptorchidism, Pineal cyst, Micropenis, A... OMIM:617516
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... ORPHA:139411
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin... ORPHA:261323
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Adrenal pheochromocytoma, Palpitations, Hypertension ... OMIM:605373
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Microcephaly, Inappropriate laughter, Abnormal repetitive mannerisms, Cere... OMIM:614104
Ogden Syndrome
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven... OMIM:300855
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Microcephaly, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms OMIM:619092
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
47,Xyy Syndrome
Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating go... ORPHA:8
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, Pleural effusion, Abnorm... ORPHA:314478
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98863
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Pallor, Agenesis of... OMIM:609053
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Pol... ORPHA:228402
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Pneumonia, Myocarditis, L... ORPHA:544482
Japanese Encephalitis
Hyponatremia, Respiratory distress, Neutrophilia, Anorexia, Choreoathetosis, Respiratory paralysi... ORPHA:79139
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Polymicrogyria, Agenesis of c... ORPHA:220497
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Hyperactivity, Failure to thrive, Pulmonic stenosis OMIM:619239
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Prune Belly Syndrome
Failure to thrive, Ventricular septal defect, Cryptorchidism, Abnormality of the uterus, Atrial s... ORPHA:2970
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Developmental And Epileptic Encephalopathy 64
Microcephaly, Chorea, Self-injurious behavior, Cerebellar hypoplasia, Hypoplasia of the corpus ca... OMIM:618004
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foram... OMIM:619488
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... OMIM:253800
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Junctional ectopic tachycard... OMIM:309801
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Cryptorchidism, Respir... ORPHA:534
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Distal sensory impairment, Acral ulceration, Impaired distal tactile sensation, Impaired distal p... OMIM:162400
Pheochromocytoma/Paraganglioma Syndrome 1
Extraadrenal pheochromocytoma, Tachycardia, Adrenal pheochromocytoma, Palpitations, Hypertension ... OMIM:168000
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesis o... ORPHA:459061
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea... OMIM:619705
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98855
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Attention deficit hyperactivity d... OMIM:610042
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Syncope, Varicocele, Anemia ORPHA:71273
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Respiratory paralysis, Depression OMIM:176000
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Abnormal heart morphology OMIM:263210
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aggressive behavior OMIM:620250
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal repetit... ORPHA:468631
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Walker-Warburg Syndrome
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li... ORPHA:899
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Agenesis of corpus callosum OMIM:218000
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Meckel Syndrome 12
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... OMIM:616258
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Dyspnea, Dilatation of the ventricular cavity, Hyperpepsino... OMIM:615745
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of... OMIM:619720
Birk-Landau-Perez Syndrome
Microcephaly, Limb ataxia, Choreoathetosis, Pachygyria, Agenesis of corpus callosum OMIM:617595
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Intermittent hyperventilation, Ataxia, Aggressive behavior, Precocious puberty, Ob... ORPHA:163681
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be... ORPHA:314679
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microcephaly, Gait ataxia, Hy... OMIM:617807
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Gait ataxia, Choreoathe... OMIM:619580
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Nizon-Isidor Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d... OMIM:618872
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, Hypok... OMIM:618426
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2189
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Abnormal cerebral white matter morphology, Hypo... ORPHA:391307
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Mirizzi Syndrome
Tachycardia, Anorexia, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductu... ORPHA:521219
Chilblain Lupus
Skin ulcer ORPHA:90280
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Increased circ... ORPHA:89938
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... OMIM:614643
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Polymicrogyria, Agenesis of c... ORPHA:220493
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Emanuel Syndrome
Redundant neck skin, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matte... ORPHA:96170
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Microsporidiosis
Sinusitis, Pneumonia, Anorexia, Cachexia, Myocarditis, Abnormality of the spleen, Abnormality of ... ORPHA:2552
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Quadricuspid aortic valve, Bicornuate uterus, Mitral valve prolapse OMIM:606408
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Leishmaniasis
Skin ulcer, Pallor, Anorexia ORPHA:507
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemi... ORPHA:358
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Hypoplasia of the corpus callosum,... ORPHA:363528
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:452
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of t... OMIM:301056
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I... OMIM:618929
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia OMIM:619074
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:616239
Plague
Respiratory distress, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Unsteady g... ORPHA:707
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Neuropathy, Hereditary Sensory And Autonomic, Type V
Impaired vibratory sensation, Pain insensitivity, Impaired pain sensation, Impaired temperature s... OMIM:608654
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity ORPHA:247768
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect OMIM:145420
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618619
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypoventilation, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Portal hype... ORPHA:731
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestiv... OMIM:261740
Baraitser-Winter Syndrome 1
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly OMIM:243310
Acitretin/Etretinate Embryopathy
Abnormal retinal morphology, Conotruncal defect, Hypoplasia of the thymus, Bradycardia, Third deg... ORPHA:40366
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... OMIM:608800
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Denys-Drash Syndrome
Neonatal respiratory distress, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate... OMIM:194080
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Microcephaly, Perisylvian polymicrogyria, Dysmetria, Attention deficit hyper... OMIM:619121
Norrie Disease
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... ORPHA:649
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Braddock-Carey Syndrome 1
Agenesis of corpus callosum, Microcephaly OMIM:619980
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Bicornuate uterus OMIM:222448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of t... OMIM:613150
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidism, Depression, Lethargy, Bradycardi... ORPHA:90674
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Abnormal atriov... ORPHA:280365
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Pagod Syndrome
Sudden cardiac death, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, Abnormal ... ORPHA:991
Ollier Disease
Skin ulcer ORPHA:296
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hyperinsulinemia, Hypoplas... ORPHA:785
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Microcephaly, Hair-pulling, Cerebral atrophy, Self-injurious behavio... OMIM:616393
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Small for gestational age, Septate vagina, Valvular pulmonary stenosis, Bi... OMIM:300707
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Retinal dystrophy, Mitral atresia, Abnormal cardiac septum morphology, Bico... ORPHA:140952
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Dry skin, Agenesis of corpus callosum ORPHA:1812
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestationa... OMIM:201750
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Tracheomalacia, Cryptorc... ORPHA:2745
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Vici Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr... ORPHA:1493
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the... OMIM:619512
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Microcephaly, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... OMIM:264480
16P13.11 Microdeletion Syndrome
Microcephaly, Self-injurious behavior, Holoprosencephaly, Compulsive behaviors, Agenesis of corpu... ORPHA:261236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Microcephaly, Cerebral atrophy, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysp... OMIM:617802
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... OMIM:616051
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Chorea, Diff... ORPHA:506
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Alexander Disease
Cerebral calcification, Ataxia, Megalencephaly, Aqueductal stenosis, Chorea, Hydrocephalus, Self-... ORPHA:58
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Dental crowding, Micrognathia... ORPHA:96182
Opitz Gbbb Syndrome
Thin upper lip vermilion, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, High palate... OMIM:300000
Marden-Walker Syndrome
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... OMIM:248700
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:238769
Takayasu Arteritis
Skin ulcer, Anorexia ORPHA:3287
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,... OMIM:619775
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplen... ORPHA:1655
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Brain Malformations With Or Without Urinary Tract Defects
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:613735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Hyperactivity, Aggressive behavior, Microcephaly, Anencephaly, Agenesis of corpus ... OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior OMIM:309520
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Agenesis of corpus callosum, Microcephaly OMIM:300004
Kleefstra Syndrome
Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Cereb... ORPHA:261494
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353281
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive OMIM:602522
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Hand-Foot-Genital Syndrome
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Hypospadias ORPHA:2438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... OMIM:236670
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... ORPHA:93111
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Desmosterolosis
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li... ORPHA:35107
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Asthma, Abnormal heart ... ORPHA:79328
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly ORPHA:139471
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... OMIM:616449
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... OMIM:146255
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Simplified gyral pattern, Athetosis, Hypoplasia of the corpus callosum,... OMIM:613454
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Fumarase Deficiency
Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Pallor, Polymicrogyri... OMIM:606812
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micrope... OMIM:270400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Woodhouse-Sakati Syndrome
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of t... OMIM:241080
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... OMIM:610131
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... ORPHA:157
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Ventricular septal defect, Hypospadias, Tracheomalacia, Aggressive ... ORPHA:96121
Familial Multiple Nevi Flammei
Cerebral calcification, Skin ulcer ORPHA:624
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:261344
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Renal Hypodysplasia/Aplasia 1
Hypertension, Bicornuate uterus, Vaginal atresia OMIM:191830
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Bohring-Opitz Syndrome
Microcephaly, Cutis laxa, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesi... OMIM:605039
Halperin-Birk Syndrome
Pseudobulbar paralysis, Agenesis of corpus callosum, Colpocephaly, Semilobar holoprosencephaly OMIM:618651
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Self-mut... ORPHA:314621
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure, Failure to thrive, Small for gestational age OMIM:618252
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb ORPHA:1827
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... ORPHA:96147
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Hypocalcemia, Low frustration toler... OMIM:619503
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... ORPHA:797
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Hypospadias, Endometriosis, Muscular ventricular septal defect, Abnormal hea... ORPHA:363444
Acrodermatitis Enteropathica
Anorexia, Erythema, Skin ulcer, Dry skin, Cerebral cortical atrophy ORPHA:37
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Dermal translucency ORPHA:529965
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Hypokalemia, Hypotension,... ORPHA:91347
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:217980
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Curry-Jones Syndrome
Agenesis of corpus callosum ORPHA:1553
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Apnea, Aspiration pneumonia, Atrial septal defect, Patent foramen ovale, H... ORPHA:438213
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Hypo... OMIM:618419
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... ORPHA:228308
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Intersti... OMIM:127550
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, Aplasia of... OMIM:619879
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome
Aggressive behavior, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ... ORPHA:464738
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Atrial septal defect, Hypopara... ORPHA:567
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ab... ORPHA:99776
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Mosaic Variegated Aneuploidy Syndrome 1
Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebral hypoplasia, Cerebella... OMIM:257300
Lichen Planopilaris
Skin ulcer ORPHA:525
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Obesity, Breast aplasia, Hypoplas... ORPHA:3138
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation OMIM:617296
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Sec... OMIM:300912
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ... ORPHA:96092
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp... OMIM:243605
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Corona... OMIM:614294
Melas
Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Erythema, H... ORPHA:550
46,Xx Gonadal Dysgenesis
Streak ovary, Ataxia, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous gen... ORPHA:243
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Choreoat... OMIM:234200
Microform Holoprosencephaly
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:280200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Papa Syndrome
Skin ulcer ORPHA:69126
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia... ORPHA:457284
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Livedoid Vasculopathy
Skin ulcer, Ischemic stroke, Paresthesia, Hyperesthesia, Macular purpura, Ecchymosis ORPHA:542643
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Fryns Syndrome
Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bicornuate uterus, Tetralogy of ... ORPHA:2059
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura ORPHA:91138
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavi... ORPHA:805
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Cryptorch... ORPHA:84
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms, Dermal translucency OMIM:617682
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Cleft Larynx, Posterior
Aspiration OMIM:215800
Fanconi Anemia, Complementation Group D2
Anemic pallor, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Attention deficit ... OMIM:227646
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi... OMIM:123700
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Hydrocephalus, Redundant neck skin, Agenesis of corpus callosum OMIM:123790
Toriello-Carey Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... ORPHA:3338
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... OMIM:608836
Sotos Syndrome
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Attention deficit hyperactivity... OMIM:117550
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Calcification of falx c... OMIM:603671
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Holoprosencephaly 14
Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Hydrocepha... OMIM:619895
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly ORPHA:250989
Pheochromocytoma/Paraganglioma Syndrome 4
Extraadrenal pheochromocytoma, Tachycardia, Adrenal pheochromocytoma, Palpitations, Hypertension ... OMIM:115310
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Respiratory insuf... ORPHA:258
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Reynolds Syndrome
Skin ulcer, Dysphagia ORPHA:779
Endocrine-Cerebroosteodysplasia
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... OMIM:612651
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:617260
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Weight loss, Agitation, Thyroid hyperplasia, Goiter ORPHA:424
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Eosinophilia, Skin ulcer ORPHA:2314
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Chromosome 14Q11-Q22 Deletion Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co... OMIM:613457
Giant Cell Arteritis
Skin ulcer, Ataxia, Paresthesia, Anorexia ORPHA:397
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Ov... ORPHA:137605
Orofaciodigital Syndrome V
Microcephaly, Agenesis of corpus callosum, Overfriendliness OMIM:174300
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Large for gesta... OMIM:229850
Calciphylaxis
Skin ulcer ORPHA:280062
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Endometriosis OMIM:613680
Prolidase Deficiency
Petechiae, Skin ulcer OMIM:170100
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Hereditary Spherocytosis
Ataxia, Pallor, Skin ulcer ORPHA:822
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Joubert Syndrome 6
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, S... ORPHA:79102
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Sel... ORPHA:2388
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
X-Linked Agammaglobulinemia
Skin ulcer ORPHA:47
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:87
Infantile Myofibromatosis
Skin ulcer ORPHA:2591
Monosomy 13Q34
Agenesis of corpus callosum, Microcephaly ORPHA:96168
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... OMIM:618500
Prolidase Deficiency
Erythema, Dry skin, Skin ulcer ORPHA:742
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Panhypopituitarism, Decreased response to growth hormo... OMIM:618922
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callos... OMIM:614866
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Dry skin, Gait at... ORPHA:33364
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:847
Okamoto Syndrome
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... ORPHA:2729
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Abnormal basal ganglia morphology, Skin ulcer, Abnormal cerebral white matt... ORPHA:68
Desmosterolosis
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c... OMIM:602398
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer ORPHA:659
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L... OMIM:610828
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Cutis laxa, Spina bifida occulta, Agenesis of corpus ca... OMIM:151050
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Microscopic Polyangiitis
Erythema, Paresthesia, Skin ulcer ORPHA:727
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... OMIM:301043
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia ORPHA:220393
Orofaciodigital Syndrome Type 5
Agenesis of corpus callosum, Microcephaly ORPHA:2919
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Opitz-Kaveggia Syndrome
Facial wrinkling, Partial agenesis of the corpus callosum, Hydrocephalus, Attention deficit hyper... OMIM:305450
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of... ORPHA:508498
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis... OMIM:277170
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity, Self-mutilation, Acral ulceration OMIM:256800
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Acute Radiation Syndrome
Scaling skin, Skin ulcer ORPHA:454831
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:85201
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss, Agitation, Thyroid hyperplasia, Goiter ORPHA:99819
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Aspiration, Abnormal repetitiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Aspiration, Abnormal repetitiv... ORPHA:353277
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Elevated circulating creatine kinase concentration, Prem... OMIM:617072
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Catastrophic Antiphospholipid Syndrome
Chorea, Skin ulcer ORPHA:464343
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum, Eosinophilia ORPHA:486
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum ORPHA:48652
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration, Distal sensory impairment OMIM:256840
Marshall-Smith Syndrome
Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce... OMIM:602535
Apert Syndrome
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... OMIM:101200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... OMIM:210710
Incontinentia Pigmenti
Eosinophilia, Erythema, Skin ulcer, Attention deficit hyperactivity disorder, Spina bifida occult... ORPHA:464
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Marden-Walker Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Attention deficit h... ORPHA:2461
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Attention deficit hyperactivity disorder, Mic... OMIM:614083
Coffin-Siris Syndrome
Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Oral aversion, Agenes... ORPHA:1465
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival overgrowth, High palate, Mi... OMIM:619777
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum OMIM:618733
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of the corpus callosum,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of the corpus callosum,... ORPHA:352665
Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:902
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Acral ulceration OMIM:201300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Small for gestation... OMIM:107480
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... OMIM:311200
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... ORPHA:2396
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum OMIM:242840
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... OMIM:304050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer, Dysphagia ORPHA:93672
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, Advanc... ORPHA:404448
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Rhombencephalosynapsis
Septo-optic dysplasia, Ataxia, Abnormality of the uterus ORPHA:59315
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Esophageal Atresia
Respiratory distress, Abnormal external genitalia, Cleft lip, Episodic respiratory distress, Chro... ORPHA:1199
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer ORPHA:1334
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Secondary microcephaly, Hypoplasia of the corpus callosum, Dysphagia... ORPHA:447997
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
Orofaciodigital Syndrome Type 1
Agenesis of corpus callosum, Dry skin, Ataxia, Dandy-Walker malformation ORPHA:2750
Parkes Weber Syndrome
Somatic sensory dysfunction, Myelopathy, Skin ulcer, Distal sensory impairment, Scaling skin ORPHA:90307
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration OMIM:606070
Pgm3-Cdg
Ataxia, Eosinophilia, Skin ulcer ORPHA:443811
Tay-Sachs Disease
Aspiration OMIM:272800
Craniofrontonasal Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:304110
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Pulmonary embolism, E... ORPHA:744
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Redundant skin ORPHA:2658
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Microcephaly, Hydrocephalus, Inappropriate laughter, Attention deficit hyperactivit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Inappropriate laughter, Attention deficit hyperactivit... ORPHA:363958
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Uterus didelphys, Absent nipple, Bicornuate uterus OMIM:200980
Microphthalmia, Syndromic 3
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:206900
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepato... OMIM:274000
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration ORPHA:600
Jacobsen Syndrome
Spina bifida, Cerebral atrophy, Attention deficit hyperactivity disorder, Pachygyria, Agenesis of... ORPHA:2308
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:93317
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Limb ataxia, Skin ulcer, Hypoplasia of the corpus callosum, Abnormal temper tantru... ORPHA:2072
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu... OMIM:613884
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:619418
Toxic Epidermal Necrolysis
Polydipsia, Erythema, Skin ulcer, Dysphagia ORPHA:537
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... OMIM:236100
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Anorexia, Purpura ORPHA:761
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Protruding tongue, Micrognathia, Aspiration ORPHA:98889
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microc... ORPHA:97297
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Agitation, Ataxia, Purpura OMIM:615688
Infantile Systemic Hyalinosis
Skin ulcer ORPHA:2176
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers, Paresthesia, Distal sensory impairment ORPHA:99956
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hypospadias, Telangiectasia of the skin, Transient ischemic atta... ORPHA:286
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Small for gestational age, Precocious p... OMIM:194190
Renal Agenesis
Hypertension, Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus ORPHA:411709
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Trisomy 8P
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly ORPHA:264450
Meige Disease
Skin ulcer ORPHA:90186
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Abnormal heart morphology, Bicornuate uterus, Micropenis, Vaginal at... OMIM:219000
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Microcephaly, Hydrocephalus, Polymicrogyria, Leukoencephalopathy, Agenesis o... OMIM:607872
Meckel Syndrome, Type 1
Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebral hypoplasia, Cerebella... OMIM:249000
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Aggressive beha... OMIM:619841
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Congestive heart failure, Hypertension, Breast aplasia, Supraventricular tachycardia OMIM:181270
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum, Attention deficit hyperactivity disorder OMIM:618748
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se... ORPHA:201
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Microcephaly OMIM:617478
Holoprosencephaly 9
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis... OMIM:610829
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... OMIM:256520
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Alternating Hemiplegia Of Childhood
Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Aspiration ORPHA:2131
Alobar Holoprosencephaly
Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha... ORPHA:93926
Lobar Holoprosencephaly
Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha... ORPHA:93924
Semilobar Holoprosencephaly
Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha... ORPHA:220386
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Gonadotropin deficiency, Atrial septal defect, Atrioven... ORPHA:672
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect, Bicornuate uterus OMIM:154400
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... OMIM:615948
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... ORPHA:50
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia, Microcephaly ORPHA:280
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619194
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Cryptorch... OMIM:261540
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus OMIM:300373
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Optic atrophy, Hypoplasia of the uterus, C... ORPHA:709
Rubinstein-Taybi Syndrome 1
Hyperactivity, Impulsivity, Spina bifida, Microcephaly, Hyperintensity of cerebral white matter o... OMIM:180849
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ca... ORPHA:506358
Microphthalmia With Linear Skin Defects Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Erythema, Agenesis of corpus callosum ORPHA:2556
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dysphagia, Truncal ataxia, Premature skin wrinkling, Dry skin, Agenesis of corpus ... OMIM:264090
Acrocallosal Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
1P36 Deletion Syndrome
Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Dysphagia, Age... ORPHA:1606
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Coffin-Siris Syndrome 4
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:614609
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Congenital Disorder Of Glycosylation, Type Im
Aspiration OMIM:610768
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Dyskeratosis Congenita
Skin vesicle, Cerebral calcification, Skin ulcer ORPHA:1775
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Coffin-Siris Syndrome 1
Ventricular septal defect, Hypospadias, Aggressive behavior, Cryptorchidism, Gait ataxia, Compuls... OMIM:135900
Microgastria-Limb Reduction Defect Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration ORPHA:2538
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Simp... OMIM:220111
Yunis-Varon Syndrome
Redundant neck skin, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Prima... ORPHA:3472
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Dry skin, Scaling skin, Skin ulcer, Microcephaly ORPHA:2526
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... ORPHA:857
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Microcephaly, Erythema, Subcortical cerebral atrophy, Cerebellar hypopl... ORPHA:2273
Cornelia De Lange Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia ma... ORPHA:199
Monosomy 9P
Agenesis of corpus callosum, Microcephaly ORPHA:261112
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:264200
Chime Syndrome
Erythema, Cerebral cortical atrophy, Skin ulcer ORPHA:3474
Hajdu-Cheney Syndrome
Hydrocephalus, Dry skin, Skin ulcer ORPHA:955
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... OMIM:157170
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Petechiae, Skin ulcer, Purpura ORPHA:906
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida OMIM:619480
Wiedemann-Rautenstrauch Syndrome
Ataxia, Hydrocephalus, Cerebellar hypoplasia, Truncal ataxia, Premature skin wrinkling, Polymicro... ORPHA:3455
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer ORPHA:2907
Systemic Sclerosis
Acral ulceration, Digital ulcer, Dysphagia ORPHA:90291
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Corneal neovasc... ORPHA:2363
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Ataxia, Diffuse leukoencephalopathy, Distal sensory impairment, Painless frac... OMIM:256810
Baller-Gerold Syndrome
Optic nerve hypoplasia, Hydrocephalus, Erythema, Spina bifida occulta, Agenesis of corpus callosu... OMIM:218600
Dermatomyositis
Dry skin, Erythema, Abnormal eosinophil morphology, Skin ulcer ORPHA:221
Ring Chromosome 13 Syndrome
Anencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:96176
Simple Cryoglobulinemia
Purpura, Paresthesia, Acral ulceration, Spontaneous pain sensation ORPHA:91139
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Loeys-Dietz Syndrome
Cardiac arrest, Uterine rupture ORPHA:60030
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261537
Primary Sjögren Syndrome
Somatic sensory dysfunction, Chorea, Skin ulcer, Dry skin, Purpura ORPHA:289390
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Leprosy
Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Penetrating foot ulcers, P... ORPHA:548
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Aggressive... OMIM:620330
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Simpson-Golabi-Behmel Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:373
Fusariosis
Skin ulcer ORPHA:228119
Cushing Disease
Skin ulcer, Decreased eosinophil count, Ecchymosis, Striae distensae, Purpura ORPHA:96253
Orofaciodigital Syndrome Type 14
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W... ORPHA:434179
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261552
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... ORPHA:95494
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Mowat-Wilson Syndrome
Focal cortical dysplasia, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Im... ORPHA:2152
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Abnormal heart morphology, Mitral re... ORPHA:284984
Malakoplakia
Skin ulcer ORPHA:556
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, ... OMIM:268300
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Uterine prolapse, Atrial fibrillation, Bicuspid aortic valve, Subarachno... OMIM:613795
Focal Dermal Hypoplasia
Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... OMIM:235730
Granulomatosis With Polyangiitis
Skin ulcer, Purpura ORPHA:900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Respiratory insuff... ORPHA:93271
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Cervical insufficiency, Mitral valve prolapse, Mitral ... ORPHA:287
Chronic Graft Versus Host Disease
Anorexia, Erythema, Skin ulcer, Dysphagia, Skin vesicle ORPHA:99921
Blau Syndrome
Skin ulcer OMIM:186580
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Inab... OMIM:601803
Blau Syndrome
Erythema, Dry skin, Skin ulcer ORPHA:90340
Atypical Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:79474
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Skin ulcer, Decreased eosinophil count, Ecchymosis, Striae distensae, Purpura ORPHA:99889
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:312870
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Redundant neck skin, Microcephaly, Cerebellar hypoplasia, Hypoplasi... OMIM:216340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin ulcer, Anorexia, Oral-pharyngeal dysphagia ORPHA:95455
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... ORPHA:573278
Coffin-Lowry Syndrome
Uterine prolapse, Mitral regurgitation, Decreased body weight OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum, Cerebral atrophy, Microcephaly ORPHA:2968
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies OMIM:616640
Early-Onset Lafora Body Disease
Ataxia, Lafora bodies ORPHA:324290

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prdm8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prdm8.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Prdm8em1(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prdm8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prdm8em1H Insertion Mice
Prdm8em1(IMPC)Wtsi Exon Deletion Mice

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