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Gene: Slc12a5 MGI:1862037

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Gene Summary

Name:
solute carrier family 12, member 5
Synonyms:
KCC2

Order Alleles

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
abnormal stomach morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
abnormal duodenum morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Slc12a5em1(IMPC)Mbp HET E15.5 0.00
abnormal skin morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
impaired glucose tolerance Slc12a5em1(IMPC)Mbp HET Early adult 3.99×10-07
abnormal colon morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
abnormal jejunum morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Slc12a5em1(IMPC)Mbp HET E15.5 0.00
decreased bone mineral content Slc12a5em1(IMPC)Mbp HET Early adult 9.73×10-05
enlarged spleen Slc12a5em1(IMPC)Mbp HET Early adult 0.00
hemorrhage Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Slc12a5em1(IMPC)Mbp HOM   Early adult 0.00
edema Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
small spleen Slc12a5em1(IMPC)Mbp 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.

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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Gross Morphology Embryo E14.5-E15.5

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10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Slc12a5 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 Slc12a5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685

The table below shows human diseases predicted to be associated to Slc12a5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:245570
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Myoclonic s... OMIM:616187
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... ORPHA:2382
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi... OMIM:614018
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Short stature, Bilateral tonic-clonic seizure OMIM:619639
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Truncal ataxia OMIM:608636
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Arthrogryposis Multiplex Congenita 6
Death in infancy, Akinesia, Respiratory failure, Death in childhood, Neonatal death, Arthrogrypos... OMIM:619334
Gastric Cancer
Stomach cancer OMIM:613659
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia, Hypokinesia OMIM:254120
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... OMIM:266100
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... OMIM:610978
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc... OMIM:617711
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Ataxia, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus OMIM:162350
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure OMIM:620398
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EE... OMIM:617106
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Jejunal Atresia
Abnormal abdomen morphology, Jejunal atresia OMIM:243600
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo... ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Hypsarrhythmia, Respiratory failure, Distal arthrogryposis,... OMIM:618011
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Inability to walk, Respiratory failu... ORPHA:90117
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... OMIM:204300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Seizure, Status epileptic... ORPHA:330050
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Mu... OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Miller-Dieker Syndrome
Omphalocele, EEG abnormality, Ataxia ORPHA:531
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Bilateral tonic-clonic seizure, Ataxia, EEG abnormality, Generalized myoclonic sei... OMIM:617836
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ataxia, Gait di... OMIM:618090
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... OMIM:615710
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE... OMIM:617976
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure OMIM:620317
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... OMIM:618328
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Dysme... OMIM:617810
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma ORPHA:882
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Broad-based gait, Short stature, Bilateral tonic-clonic seizure OMIM:617862
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Omphalocele
Omphalocele ORPHA:660
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus OMIM:615362
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hypoglycemia ORPHA:664
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular gener... OMIM:607876
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Respiratory insufficiency, Pulmon... ORPHA:994
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... OMIM:609056
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Respiratory arrest... OMIM:168605
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, EEG with focal spikes, Gait i... ORPHA:488635
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy OMIM:258320
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality OMIM:612621
Congenital Myopathy 12
Death in infancy, Akinesia, Respiratory insufficiency due to muscle weakness, Pulmonary artery st... OMIM:612540
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Respiratory insufficiency due to mu... OMIM:618184
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... ORPHA:86909
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... ORPHA:266
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Akinesia OMIM:607598
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... ORPHA:2902
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, S... OMIM:226750
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... OMIM:616981
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Joint contracture, Respiratory insufficiency, Death in childhood OMIM:616081
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Seizure, Athetosis, Focal impaired awareness seizure, Gen... ORPHA:382
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Hypokinesia, Respiratory insufficiency, Increased connective tissue ORPHA:238329
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, EEG abn... OMIM:271980
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Growth delay, Seizure, EEG wi... ORPHA:209370
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... OMIM:617105
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Myoclonus, Ataxia, Bilateral tonic-clonic seizure OMIM:619065
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Convulsive status epilepticus, EEG abnormality OMIM:618760
Congenital Myopathy 9A
Death in infancy, Akinesia OMIM:618822
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure OMIM:611603
Gombo Syndrome
Microphthalmia OMIM:233270
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Respirat... OMIM:614399
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, ... ORPHA:168491
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability t... ORPHA:561854
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia OMIM:613630
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu... OMIM:611890
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with mul... ORPHA:289266
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr... ORPHA:2590
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Malabsorption ORPHA:42642
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
Congenital Disorder Of Glycosylation, Type Iaa
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Impaired tandem gait, Seizure, Falls, Gait disturbance OMIM:300423
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal... ORPHA:208447
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... OMIM:612714
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multi... OMIM:608013
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... OMIM:618917
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Acalvaria
Omphalocele, Abnormal lung lobation ORPHA:945
Postencephalitic Parkinsonism
Diminished movement, Abnormal respiratory system physiology, Akinesia, Cough ORPHA:97349
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Chor... OMIM:612164
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Hypokinesia OMIM:300816
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Generalized non-motor (absence) ... ORPHA:485350
Arthrogryposis Multiplex Congenita 5
Death in infancy, Neonatal respiratory distress, Inguinal hernia, Akinesia, Flexion contracture, ... OMIM:618947
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Peho-Like Syndrome
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac... OMIM:607765
Congenital Myopathy 21 With Early Respiratory Failure
Inguinal hernia, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Short stature, Absent pubertal growth spurt, Bilateral tonic-clonic seizure, Ataxi... ORPHA:464282
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Seizure, EEG abnormality, Gait disturbance, Abnormal posturing ORPHA:157941
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Broad-based gait OMIM:614450
Parkinson Disease 17
Akinesia OMIM:614203
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status epilepti... ORPHA:529665
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance, Hypokinesia OMIM:606693
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... OMIM:613970
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... ORPHA:309246
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs ORPHA:1263
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Intrauterine growth retardation, Bilateral tonic-clonic seizure OMIM:618237
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Pulmonary hypoplasia, Akinesia OMIM:253290
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... OMIM:613101
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Febrile seizure (within the age range... OMIM:612736
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Apnea, Umbilical hernia, Aspiration, Hypokinesia OMIM:149400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vestibulo-ocular reflex ORPHA:247234
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, EEG abnormality, Dysdiadochokinesis, Myoclonus... ORPHA:313772
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Seizure, Tip-toe gait, Gait disturbance, Abnormal posturing ORPHA:216866
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Dk1-Cdg
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal ... ORPHA:91131
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Multifocal epileptiform discharges, Athetosis, ... OMIM:617493
Intermediate Nemaline Myopathy
Flexion contracture, Respiratory failure, Difficulty walking, Arthrogryposis multiplex congenita,... ORPHA:171433
Duodenal Atresia
Duodenal atresia OMIM:223400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:604317
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure ORPHA:53583
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Nanophthalmos
Microphthalmia ORPHA:35612
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Respiratory failure, Abnormality of conne... ORPHA:370968
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... ORPHA:488613
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Hypercholanemia, Familial 1
Fat malabsorption, Rickets, Steatorrhea OMIM:607748
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus,... OMIM:614487
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Severe Canavan Disease
Inability to walk, Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia OMIM:605407
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epileptiform discharg... ORPHA:70472
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia ORPHA:75233
Spinocerebellar Ataxia Type 1
Dysmetria, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, Gait disturban... ORPHA:98755
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Omphalocele, Pulmonary hypoplasia OMIM:617895
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... OMIM:602579
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia OMIM:614559
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:618093
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Nanophthalmos 4
Microphthalmia OMIM:615972
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Dysmetria, Gait disturbance, At... ORPHA:93952
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... OMIM:619877
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Hy... OMIM:615042
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Diarrhea 9
Villous atrophy OMIM:618168
Developmental And Epileptic Encephalopathy 61
Loss of ambulation, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Death in childhood OMIM:619147
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, EEG with focal sharp... ORPHA:79243
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Sporadic Infantile Bilateral Striatal Necrosis
Focal-onset seizure, Atypical absence status epilepticus, Titubation, Gait ataxia, Seizure, Gait ... ORPHA:225147
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Increased connective tissue, Atelectasis, Inability to walk, Flexion contracture... ORPHA:258
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure OMIM:615716
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Hypokinesia OMIM:609161
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Pulmon... OMIM:263210
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Dysmetria, Gait ataxia, Progressive cerebellar a... ORPHA:254881
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Impaired tandem gait, Gait ataxia, Limb ataxia, ... OMIM:117360
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Hypokinesia OMIM:620007
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Joint contracture, Akinesia OMIM:225790
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Ar... OMIM:616867
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology ORPHA:281090
Trigonocephaly 1
Omphalocele OMIM:190440
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Dysphagia ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... OMIM:618186
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption ORPHA:79302
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi... OMIM:620292
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Ataxia OMIM:272300
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Respiratory failure OMIM:613435
Cln3 Disease
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Shufflin... ORPHA:228346
Sarcosinemia
Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Colonic Atresia
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... ORPHA:1198
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Recurrent respiratory infections, Pulmonary hypoplasia, Pulmonary artery atresia OMIM:618316
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Respiratory failure, Interictal epileptiform activity, Loss of ambu... OMIM:620166
Spinocerebellar Ataxia Type 12
Ataxia, Unsteady gait, Gait disturbance, Limb dysmetria, Hypokinesia ORPHA:98762
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Osteoporosis, Glucose intolerance, C... OMIM:235200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:616100
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon... OMIM:310200
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Camptodactyly of finger ORPHA:896
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... OMIM:616050
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Pulmonary hypoplasia, Pulmona... OMIM:608149
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure OMIM:618233
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Ins... OMIM:604320
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Respiratory failure, Camptoda... ORPHA:254528
Tibial Muscular Dystrophy
Respiratory failure, Steppage gait, Difficulty walking ORPHA:609
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Episodic ataxia, Respiratory failure, Apneic episodes precipitated by illness, f... OMIM:312170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect, Respiratory failu... OMIM:606612
Developmental And Epileptic Encephalopathy 89
Omphalocele, EEG with burst suppression, Flexion contracture, Hypsarrhythmia, Death in childhood,... OMIM:619124
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... OMIM:619983
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Dpagt1-Cdg
Lipodystrophy, Ataxia, Akinesia, Inability to walk, Flexion contracture, Hypsarrhythmia, Pulmonar... ORPHA:86309
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Hypokinesia OMIM:610498
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Ataxia, Congenital laryngeal stridor ORPHA:2254
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Gait disturbance, EEG with continuous slow activity ORPHA:275864
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Gait ataxia, ... ORPHA:363400
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti... OMIM:619827
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopenia, Lymphopenia OMIM:620210
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Respiratory insufficiency, Hypokinesia OMIM:614707
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... OMIM:618935
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Beta-Thalassemia Intermedia
Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes melli... ORPHA:231222
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate, Ascites OMIM:269920
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Mediast... ORPHA:379
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Loss of am... ORPHA:79264
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Difficulty walking, Noc... OMIM:603689
Mirage Syndrome
Hypoglycemia, Thrombocytopenia, Esophageal stricture, Radial club hand, Hypoplastic spleen, Leuko... OMIM:617053
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly... ORPHA:381
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Intellectual Developmental Disorder, X-Linked 30
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Diminished movement ORPHA:240103
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neona... OMIM:269860
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking ORPHA:280210
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Death in childhood, Loss of ambulation OMIM:615838
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Flexion contracture, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait OMIM:616505
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Alg6-Cdg
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice ORPHA:79320
Leigh Syndrome
Respiratory failure, Ataxia, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Intestinal malrotation ORPHA:3035
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Pulmonary Alveolar Microlithiasis
Bronchitis, Ground-glass opacification, Increased pulmonary vascular resistance, Nonproductive co... ORPHA:60025
Severe Congenital Nemaline Myopathy
Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... ORPHA:171430
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Reactive hypoglycemia, Hypoinsulinemia, Malabsorption OMIM:600955
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Flexion contracture, Elbow flexion contracture, Knee flexion contracture ORPHA:75840
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Short stature, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:457240
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Caudal Duplication
Omphalocele ORPHA:1756
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Respiratory insufficiency ORPHA:2484
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia ORPHA:3240
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Diastasis recti ORPHA:254534
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Cellulitis, Recurrent respiratory infections, Cough ORPHA:2314
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia OMIM:243605
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea, Inguinal hernia OMIM:614857
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... OMIM:610042
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension OMIM:619431
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs ORPHA:1834
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... OMIM:620249
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 1
Hypokinesia OMIM:609060
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... ORPHA:365
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia OMIM:271900
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil... ORPHA:544503
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Difficulty walking OMIM:613954
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia OMIM:300514
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... OMIM:618325
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic seizure, Inability... OMIM:619580
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Rickets, Cholestasis,... ORPHA:79303
Lymphatic Malformation 12
Neonatal respiratory distress, Inguinal hernia, Pleural thickening, Death in adolescence, Neonata... OMIM:620014
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os... OMIM:611490
Sandestig-Stefanova Syndrome
EEG abnormality, Respiratory failure, Camptodactyly OMIM:618804
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Hypsarrhythmia, Growth delay, Seizure, Focal clonic seizure, Myoc... OMIM:220120
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy OMIM:613155
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Reduced bone mineral density ORPHA:2617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:199354
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Unilateral Polymicrogyria
Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Myoclonus, Focal impaired awa... ORPHA:268943
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Pancytopenia, Autoimmune hemoly... OMIM:614700
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... ORPHA:2092
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites, Gastroesophageal reflux ORPHA:2414
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hypoplasia of the small i... OMIM:200995
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Osteopenia, Anemia OMIM:618107
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Carpenter Syndrome 1
Omphalocele, Umbilical hernia, Joint contracture of the hand, Camptodactyly OMIM:201000
Teebi Hypertelorism Syndrome 1
Omphalocele, Pulmonary hypoplasia OMIM:145420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia OMIM:602481
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Broad-based gait OMIM:609625
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the splee... ORPHA:2538
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Hypokinesia, Gait ataxia ORPHA:101150
Cofs Syndrome
Microphthalmia ORPHA:1466
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Hypoglycemia OMIM:306000
Fibrochondrogenesis 1
Omphalocele, Joint contracture of the hand, Stillbirth, Camptodactyly OMIM:228520
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Respiratory insufficiency ORPHA:2021
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... OMIM:155310
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory f... OMIM:607625
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... OMIM:620296
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio... ORPHA:891
Congenital Toxoplasmosis
Microphthalmia, Ascites ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Respirat... ORPHA:536467
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger ORPHA:1194
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Fle... OMIM:618291
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Craniosynostosis ORPHA:314575
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Difficulty walking, Truncal ataxia ORPHA:369840
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:616300
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Malabsorption, Splen... ORPHA:77297
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia ORPHA:3386
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Postnatal growth retarda... OMIM:300912
Triploidy
Omphalocele ORPHA:3376
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, High palate, Thrombocytopenia ORPHA:85212
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)... OMIM:614207
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Cholestasis, Protein-losing enteropathy, Ascites, Anemia OMIM:608104
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... ORPHA:1692
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Flexion contra... OMIM:310400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Typical Nemaline Myopathy
Waddling gait, Flexion contracture, Respiratory insufficiency, Gait disturbance, Nocturnal hypove... ORPHA:171436
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Osteoporosis, Insulin resistance... OMIM:613327
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing OMIM:128100
Seckel Syndrome 2
Microphthalmia, Heart murmur OMIM:606744
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Tachypnea, Death in childhood, Pulmonary arterial hypertension, Hypokinesia OMIM:613320
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios OMIM:619053
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts... OMIM:610199
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Camptodactyly, Joint contracture... OMIM:247200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs ORPHA:887
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia OMIM:158170
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... ORPHA:2137
Oculoskeletodental Syndrome
Splenomegaly, Macroglossia, Protein-losing enteropathy, Hepatomegaly OMIM:618440
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Apnea, Diminished movement, Cardiorespiratory arrest, Choreoathetos... OMIM:608643
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Camptodactyly, Ventral hernia OMIM:618529
Zygomycosis
Fasciitis, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectio... ORPHA:73263
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Congestive heart failure, Edema ORPHA:2505
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Increased connective tissue, Flexion contracture, Ab... ORPHA:98905
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Jaberi-Elahi Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Inability to walk, Dysmetria, Gait ataxia, Chor... OMIM:617988
Huntington Disease
Inability to walk, Gait disturbance, Gait imbalance, Difficulty walking, Hypokinesia ORPHA:399
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Truncal ataxia, R... OMIM:220110
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Difficulty walking, Focal myo... ORPHA:481152
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Foot acroosteolysis, Periosteal t... OMIM:161700
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis ORPHA:319213
Cog8-Cdg
Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, As... ORPHA:209905
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Pierpont Syndrome
Microphthalmia ORPHA:487825
Marshall-Smith Syndrome
Omphalocele, Apnea, Recurrent upper respiratory tract infections, Stridor, Umbilical hernia, Aspi... OMIM:602535
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... ORPHA:2059
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-o... ORPHA:163681
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, He... ORPHA:264580
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Osteomalacia, ... OMIM:619381
Warburg Micro Syndrome 3
Postnatal growth retardation, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Pulmonary arteri... OMIM:618454
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Pulmonary arterial hypertension OMIM:300887
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Apnea, Flexion contracture, Elbow flexion contract... OMIM:617301
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Broad-based gait, Ataxia, Hypokinesia OMIM:617854
Constricting Bands, Congenital
Omphalocele, Abnormal lung lobation, Bladder exstrophy, Gastroschisis OMIM:217100
Kagami-Ogata Syndrome
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti ORPHA:254519
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Duodenal atresia OMIM:603467
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Growth de... OMIM:617798
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Thoracoabdominal Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:79351
Congenital Tracheal Stenosis
Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ... ORPHA:141127
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Growth delay, Seizure,... ORPHA:247262
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Dim... ORPHA:2912
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, EEG with burst ... OMIM:618143
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Type II diabetes mellitus, Type I diabetes... ORPHA:1133
Lethal Congenital Contracture Syndrome 10
Omphalocele, Pulmonary hypoplasia OMIM:617022
Pierpont Syndrome
Microphthalmia OMIM:602342
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Inguinal hernia, Death in infancy, Abnormal dental enamel morph... ORPHA:534
Hartsfield Syndrome
Encephalocele, Microphthalmia ORPHA:2117
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... ORPHA:247806
Microform Holoprosencephaly
Maternal diabetes, Cleft palate, Duodenal atresia ORPHA:280200
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... ORPHA:1655
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Stridor, Tracheomalacia, Umbilical... ORPHA:2745
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive gait ataxia, Falls, Loss of ambu... ORPHA:329308
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:42
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Riddle Syndrome
Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interst... ORPHA:420741
Ritscher-Schinzel Syndrome 4
Short stature, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis OMIM:619435
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Microcolon ORPHA:163746
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Pulmonary artery dilatation, Neonatal respiratory distress, Diastasis recti, Pulmona... OMIM:265380
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome... ORPHA:91138
Alg11-Cdg
EEG with burst suppression, Abnormal adipose tissue morphology, Ataxia, Hypokinesia ORPHA:280071
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen... OMIM:620224
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Generalized non-motor... OMIM:615398
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia... ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure OMIM:616351
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Unstead... OMIM:615512
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Stillbirth, Gait disturbance, Pulmonary arterial h... OMIM:309350
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion, Cellulitis OMIM:306400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Growth delay, Seizure... OMIM:617193
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Umbilical hernia ORPHA:2241
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Osteolysis, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Stoma... ORPHA:1052
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... ORPHA:79138
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Mediastinal lymphadenopat... ORPHA:809
Developmental And Epileptic Encephalopathy 28
Hypokinesia OMIM:616211
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Hypoglycemic seizu... ORPHA:480864
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus ORPHA:364028
Combined Oxidative Phosphorylation Deficiency 27
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:616672
Matthew-Wood Syndrome
Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis ORPHA:2470
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Ataxia, Death in childhood OMIM:617186
Pentalogy Of Cantrell
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:1335
Monosomy 18P
Microphthalmia, Hypertension, Lymphedema ORPHA:1598
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Pelger-Huet Anomaly
Mild short stature, Seizure, Bilateral tonic-clonic seizure OMIM:169400
C Syndrome
Omphalocele OMIM:211750
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood, Joi... OMIM:620278
Hypermanganesemia With Dystonia 2
Limb joint contracture, Inability to walk, Achilles tendon contracture, Scissor gait, Tip-toe gai... OMIM:617013
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Osteopor... OMIM:232220
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomeg... ORPHA:465508
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Diabetes mellitus, Exocrine pan... ORPHA:699
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, EEG abnormality... OMIM:617281
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Malabsorption, Splenomegaly, Osteoporosi... ORPHA:2796
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... ORPHA:79665
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Chylomicron Retention Disease
Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Fat malabsorption, Hepatic ... ORPHA:71
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Inability to walk, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory... ORPHA:26791
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges ORPHA:453510
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Focal myocl... ORPHA:369929
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Pyloric stenosis, Abdominal adhesions, Neutropenia, Meckel diverticulum OMIM:616395
German Syndrome
Arthrogryposis multiplex congenita, Camptodactyly of finger, Hypokinesia ORPHA:2077
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle... OMIM:229850
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Extr... ORPHA:913
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenoc... ORPHA:171
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Infantile Dystonia-Parkinsonism
Hypokinesia ORPHA:238455
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Elbow flexion contracture, Respiratory in... OMIM:608836
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, High, narrow palate, Esophageal atresia,... ORPHA:96149
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Respiratory ... ORPHA:206436
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Recurrent... ORPHA:79240
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Dyspnea, Pulmonary artery s... ORPHA:3342
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulm... ORPHA:991
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture, Exaggerated startle response OMIM:620327
Alg9-Cdg
Omphalocele, Lipodystrophy, Asthma, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia, Respiratory insufficiency, Aplasia/Hypoplasia of th... ORPHA:2162
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis OMIM:618914
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt... ORPHA:77259
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Respiratory failure, Pneumothorax ORPHA:445038
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Bone Marrow Failure Syndrome 5
Growth delay, Short stature, Bilateral tonic-clonic seizure OMIM:618165
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal... ORPHA:391487
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Adenomatous co... ORPHA:733
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
African Trypanosomiasis
Miscarriage, Akinesia, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Apnea, Camptodactyly, Tracheomalacia, Joint contracture of the hand, Flexion contrac... OMIM:300373
Trisomy 18
Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Midgut malrotation, High, narrow palate, Abnormality of the abdomin... ORPHA:2409
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Oligohydramnios ORPHA:228390
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger, Pulmonary hypoplasia ORPHA:90652
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumonia, Respiratory fail... ORPHA:496641
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Leigh Syndrome
Multiple joint contractures, Ataxia, Hypsarrhythmia, Choreoathetosis, Athetosis, Respiratory fail... ORPHA:506
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... OMIM:620024
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Atelectasis, Asthma, Chronic pulmonary obstru... ORPHA:567
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Pulmonary artery atresia, Camptodactyly OMIM:616894
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Arrhythmia ORPHA:3191
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonary... ORPHA:96334
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Cardiomegaly, Posteriorly placed anus, Asplenia, Biliary atresia, Abdominal situs i... OMIM:306955
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hydrops fetalis ORPHA:3378
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Duodenal atresia OMIM:614114
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Congenital Fibrinogen Deficiency
Microphthalmia, Tachycardia, Internal hemorrhage ORPHA:335
Joubert Syndrome 22
Microphthalmia OMIM:615665
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Portal hypertension, Portal vein thromb... ORPHA:729
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hematochez... OMIM:615895
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Tricuspid regurgitation OMIM:618652
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Sandifer Syndrome
Abnormal posturing, Hiatus hernia ORPHA:71272
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Rectal prolapse, Pulmonary lymphangiectas... OMIM:235510
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia, Abnormal lung lobation ORPHA:2166
Glass Syndrome
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within... OMIM:612313
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Diabetes mellitus, Abnormality of ne... ORPHA:1775
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Growth delay, Seizure, ... OMIM:617799
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Gastritis, Malabsorption, Autoimmune thrombocytopenia, Splenomegaly,... ORPHA:37042
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Mosaic Variegated Aneuploidy Syndrome 1
Leukemia, Cleft palate, Duodenal atresia OMIM:257300
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Splenomegaly, Paralytic ileus, Melena, P... OMIM:276700
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Fat malabsorpt... ORPHA:811
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Jacobsen Syndrome
Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Bone marrow hypo... ORPHA:2308
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Niemann-Pick Disease, Type C1
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:257220
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, EEG with burst suppres... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Ataxia, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in child... OMIM:610505
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Pulmonary arterial hypertension,... ORPHA:974
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Short stature, Bilateral tonic-clonic seizure ORPHA:423479
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Tip-toe gait, Respiratory insufficiency ORPHA:746
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Inferiorly... OMIM:263650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation, Hypoglycemia OMIM:615577
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
3Mc Syndrome 1
Omphalocele, Abnormality of the abdominal wall, Diastasis recti OMIM:257920
Melas
Short stature, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Seizure, EEG abnormal... ORPHA:550
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Hypercapnia, Ankle flexion contracture, Respir... ORPHA:2020
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at... OMIM:270100
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Boutonneuse Fever
Respiratory failure ORPHA:83313
Cloacal Exstrophy
Omphalocele, Bladder exstrophy, Cloacal exstrophy ORPHA:93929
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Joubert Syndrome 14
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Microphthalmia OMIM:614424
1Q44 Microdeletion Syndrome
Growth delay, Short stature, Bilateral tonic-clonic seizure ORPHA:238769
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti OMIM:618419
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Neonatal respiratory distress ORPHA:3164
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia OMIM:619351
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Microvesicular hepatic steat... OMIM:619418
Hermansky-Pudlak Syndrome 10
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Codas Syndrome
Omphalocele, Enamel hypoplasia OMIM:600373
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Temtamy Syndrome
Aortic regurgitation, Microphthalmia OMIM:218340
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal varix, He... OMIM:615688
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Periostitis, Osteolysis OMIM:612852
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Cardiac Diverticulum
Omphalocele, Diastasis recti, Pulmonary artery stenosis, Partial anomalous pulmonary venous retur... ORPHA:1686
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Biliary atresia, Glycosuria, Colon... OMIM:600001
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... ORPHA:261584
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Chromosome Xp11.3 Deletion Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:300578
Meckel Syndrome, Type 4
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Shprintzen Omphalocele Syndrome
Omphalocele, Neonatal respiratory distress OMIM:182210
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Intestinal perforation, Thrombocytopenia, Rectal prolapse, Leukocytosis, Colonic... ORPHA:90038
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Growth delay, Seizure, Myoclonic spasms, Neonatal death OMIM:252160
Vici Syndrome
Postnatal growth retardation, Seizure, Abnormal posturing OMIM:242840
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pn... OMIM:188400
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Meckel Syndrome 14
Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgita... OMIM:619879
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... OMIM:300952
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615802
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Gait disturbance, Gait imbalance, Diffi... ORPHA:488627
Sandhoff Disease
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure OMIM:268800
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Focal motor seizure, Choreoathetosis, EEG abnormality, Se... ORPHA:2131
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris... OMIM:609049
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... ORPHA:84064
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency... OMIM:613658
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia ORPHA:63259
Refsum Disease
Heart block, Microphthalmia, Cardiomyopathy ORPHA:773
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Chand Syndrome
Atelectasis, Ataxia ORPHA:1401
De Sanctis-Cacchione Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Ataxia, Scissor gait, Choreoathetosis OMIM:278800
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Fat malabsorption, Type I diabetes mellitus, Acanthocytosis ORPHA:96180
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Congenital pulmonary airway malformation ORPHA:436252
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Increased fecal c... OMIM:263700
Baraitser-Winter Syndrome 1
Microphthalmia, Aortic valve stenosis OMIM:243310
Fg Syndrome Type 1
Abnormal large intestine morphology, Craniosynostosis, Malrotation of colon, Pyloric stenosis, Ga... ORPHA:93932
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Furrowed tongue, Gastroesophageal reflux, High palate, Annular pancreas, Duodenal atresia OMIM:616975
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Adipose tissue loss, Chronic pulmonary obstru... ORPHA:125
Familial Mediterranean Fever
Intestinal obstruction, Malabsorption, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, ... ORPHA:342
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Parkinson Disease 1, Autosomal Dominant
Loss of ambulation, Gait disturbance, Shuffling gait, Hypokinesia OMIM:168601
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Thin bony cortex OMIM:605822
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Ablepharon Macrostomia Syndrome
Omphalocele, Umbilical hernia, Camptodactyly of finger ORPHA:920
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Joubert Syndrome 37
Microphthalmia OMIM:619185
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbil... OMIM:304120
Hennekam Syndrome
Lymphopenia, Craniosynostosis, Malabsorption, Pyloric stenosis, Splenomegaly, Pulmonary lymphangi... ORPHA:2136
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... OMIM:613471
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Gaisböck Syndrome
Diabetes mellitus, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentratio... ORPHA:90041
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion c... OMIM:300868
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Gastroesophageal reflux, Duodenal atresia ORPHA:464306
Meckel Syndrome, Type 1
Omphalocele, Camptodactyly of finger, Pulmonary hypoplasia OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato... OMIM:620066
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Increased theta f... ORPHA:459070
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... ORPHA:369837
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Heart murmur ORPHA:2728
Niemann-Pick Disease Type C
Ataxia, Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respirato... ORPHA:646
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Ataxia, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Growth delay, Seizure, Postnatal growth retardation, Bilateral tonic-clonic seizure OMIM:301040
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Recurrent upper respiratory tract infections, Dea... OMIM:308205
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension, Edema, Oligohydramnios OMIM:617729
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... OMIM:301043
Abetalipoproteinemia
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait ORPHA:14
Moebius Syndrome
Microphthalmia OMIM:157900
Fraser Syndrome
Omphalocele, Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia, Umbilical hernia ORPHA:2052
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
C Syndrome
Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d... ORPHA:1308
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um... OMIM:305600
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Duodenal atresia ORPHA:468631
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdominal wall defect... ORPHA:322
Autosomal Dominant Progressive External Ophthalmoplegia
Ataxia, Respiratory insufficiency, Gait ataxia, Gait disturbance, Hypokinesia, Exertional dyspnea ORPHA:254892
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Duodenal atresia ORPHA:464311
Multiple Myeloma
Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ... ORPHA:29073
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Oligohydramnios ORPHA:99776
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Hematemesis, Insulinoma, Osteolysis, Thym... ORPHA:652
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios ORPHA:3301
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Gait ataxia, Seizure, Generalized myocl... ORPHA:255210
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:116
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Pseudoleprechaunism Syndrome, Patterson Type
Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of... ORPHA:93111
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Polyhydramnios, Edema OMIM:302960
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Ataxia, Respiratory failure ORPHA:533
Martsolf Syndrome 1
Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth, Abnormal lung lobation OMIM:236680
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Webb-Dattani Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:615926
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure,... ORPHA:268261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Abnormal... ORPHA:2273
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure ORPHA:158687
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Holoprosencephaly 7
Omphalocele OMIM:610828
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Unsteady gait, Seizure OMIM:614947
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Papillorenal Syndrome
Microphthalmia, Hypertension, Edema OMIM:120330
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Oligohydramnios OMIM:613451
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype... ORPHA:464
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension OMIM:616449
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Spina bifida, Polyhydramnios ORPHA:3412
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
X Small Rings
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly, Pulmonic stenosis OMIM:619148
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Allodynia ORPHA:51890
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Kinsship Syndrome
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc... OMIM:619297
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Oeis Complex
Omphalocele, Bladder exstrophy, Cloacal exstrophy OMIM:258040
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis OMIM:253800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-at... OMIM:614756
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Intrauterine growth retardation, Bilateral tonic-clonic seizure, A... ORPHA:99885
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Ablepharon-Macrostomia Syndrome
Omphalocele, Camptodactyly, Ventral hernia OMIM:200110
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Diabetes mellitus, Splenomegaly, H... OMIM:608594
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure OMIM:261515
Hypoplasminogenemia
Duodenal ulcer ORPHA:722
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Proportionate short stature OMIM:234100
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Hypoglycemia, Abnormal large intestine morphology, Narrow palate, Hamartoma... ORPHA:109
Diets-Jongmans Syndrome
Duodenal atresia OMIM:618846
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligohydramnios OMIM:251230
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Corneal neovascularization, Telangiectasia OMIM:278730
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Ascites, Protein-losing enteropathy OMIM:618183
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:618426
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia ORPHA:447997
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti OMIM:130650
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Enamel hypo... ORPHA:79404
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:93271
Tarp Syndrome
Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue no... ORPHA:2886
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Okamoto Syndrome
Omphalocele ORPHA:2729
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Wilson Disease
Decreased nerve conduction velocity, Hypokinesia, Chondrocalcinosis OMIM:277900
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Myhre Syndrome
Respiratory failure, Ataxia, Respiratory insufficiency, Camptodactyly OMIM:139210
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Seizure OMIM:280000
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Knobloch Syndrome
Lymphangioma, Pyloric stenosis ORPHA:1571
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contrac... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Atelis Syndrome 2
Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
3Q29 Microdeletion Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:65286
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... ORPHA:77293
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Pulmonary lymphangiomyoma... ORPHA:805
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Telangiectasia OMIM:601675
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Charge Syndrome
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Lymphopeni... OMIM:214800
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Maternal ... ORPHA:1708
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Oligohydramnios OMIM:251300
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dyspnea... ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Costello Syndrome
Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Respiratory failure, Trache... OMIM:218040
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova... OMIM:107480
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:464738
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Oligohydramnios ORPHA:364577
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Ogden Syndrome
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal growth retard... OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormal thymus morphology, Cleft palate, Abnormality of the... OMIM:219000
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Danon Disease
Hypokinesia OMIM:300257
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Head titubation, Seizure, Falls, Loss of ambulation, Decreased am... ORPHA:2388
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Difficulty walking, Gait ataxia ORPHA:457359
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Gaucher Disease
Ataxia, Short stature, Bilateral tonic-clonic seizure, Delayed puberty, Generalized myoclonic sei... ORPHA:355
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Intussusception OMIM:135900
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Fraser Syndrome 2
Respiratory failure OMIM:617666
Cohen Syndrome
Microphthalmia ORPHA:193
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage OMIM:308300
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Microphthalmia, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Rat-Bite Fever
Diminished movement ORPHA:31205
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis OMIM:272950
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Microphthalmia, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ... OMIM:100300
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Hypertrophic card... ORPHA:84
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Yunis-Varon Syndrome
Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Renovas... ORPHA:3472
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia ORPHA:90324
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Pulmonary arterial hypertension, Polyhydramnios OMIM:620186
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Unilateral lung agenesis ORPHA:500150
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology OMIM:601776
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Trichothiodystrophy
Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Oculodentodigital Dysplasia
Microphthalmia, Arrhythmia OMIM:164200
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Restrictive Dermopathy
Osteopenia, Submucous cleft hard palate, Decreased skull ossification, Microcolon ORPHA:1662
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Diabetes mellitus, Impaired g... ORPHA:99889
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclo... OMIM:620330
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hallermann-Streiff Syndrome
Microphthalmia, Congestive heart failure ORPHA:2108
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Broad-based gait, Short stature, Inability to walk, Seizure, Myoclonus, Bilatera... ORPHA:438213
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Arrhythmia, Hypertension OMIM:133540
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Pulmonary arterial hypertension, Portal hypertension OMIM:620005
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Umbilical hernia, Microphthalmia, Oligo... OMIM:612289
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Telangiectasia OMIM:268400
Neurotrophic Keratopathy
Allodynia, Corneal scarring ORPHA:137596
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatomegaly, Intestinal malrotation, Splenomegaly, Cleft palat... OMIM:312870
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Williams Syndrome
Colonic diverticula, Osteopenia, Increased bone mineral density, Peptic ulcer, Malabsorption, Car... ORPHA:904
Microphthalmia, Syndromic 2
Anophthalmia, Phthisis bulbi, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Aortic valve s... OMIM:300166
Hartsfield Syndrome
Growth delay, Bilateral tonic-clonic seizure OMIM:615465
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure ORPHA:2751
Isolated Posterior Meningocele
Hypokinesia, Difficulty walking ORPHA:268810
Doors Syndrome
EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Roberts Syndrome
Microphthalmia, Polyhydramnios ORPHA:3103
Degcags Syndrome
Tachycardia, Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia OMIM:619488
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mend Syndrome
Microphthalmia, Aortic valve stenosis ORPHA:401973
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Oligohydramnios OMIM:608670
Benign Schwannoma
Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Cockayne Syndrome
Microphthalmia, Hypertension, Retinal hemorrhage ORPHA:191
Steinfeld Syndrome
Microphthalmia OMIM:184705
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Charge Syndrome
Microphthalmia, Anophthalmia, Polyhydramnios ORPHA:138
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Monosomy 9P
Microphthalmia ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... OMIM:175780
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Microphthalmia, Polyhydramnios, Branchial fistula OMIM:613406
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Sp... ORPHA:508488
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Kabuki Syndrome 1
Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro... OMIM:147920
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Monosomy 13Q14
Microphthalmia ORPHA:1587
Pallister-Hall Syndrome
Microphthalmia, Umbilical hernia, Oligohydramnios ORPHA:672
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:113620
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Frontal encephalocele, Polyhydramnios OMIM:268300
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis OMIM:235730
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Holoprosencephaly 1
Microphthalmia OMIM:236100
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Aortic valve stenosis, Hyphema, Pulmonic stenosis ORPHA:261552
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis ORPHA:2152
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Slc12a5

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 Slc12a5.

No publications found that use IMPC mice or data for Slc12a5.

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
Slc12a5em1(IMPC)Mbp Exon Deletion Mice, Tissue
Slc12a5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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