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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 blood vessel morphology Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
hemorrhage Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
edema Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen 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 HET E15.5 0.00
abnormal skin morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Slc12a5em1(IMPC)Mbp HOM E15.5 0.00
small spleen Slc12a5em1(IMPC)Mbp HET Early adult 0.00
impaired glucose tolerance Slc12a5em1(IMPC)Mbp HET Early adult 3.99×10-07
preweaning lethality, complete penetrance Slc12a5em1(IMPC)Mbp HOM   Early adult 0.00
abnormal colon morphology Slc12a5em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Slc12a5em1(IMPC)Mbp HET E15.5 0.00
abnormal stomach 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 HOM E15.5 0.00
decreased bone mineral content Slc12a5em1(IMPC)Mbp HET Early adult 9.17×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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

Images

10 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
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laughing, Bilate... ORPHA:293181
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... 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
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:615006
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Enhancement of the C-reflex, Bilateral tonic-clonic seiz... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Bilateral tonic-clonic s... OMIM:615127
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, EEG with centrotemporal focal spike waves, Seizure, Bilateral tonic-clonic s... OMIM:245570
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... OMIM:615369
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Developmental And Epileptic Encephalopathy 59
Inability to walk, Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizur... OMIM:617904
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Continuo... ORPHA:725
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalized epilep... OMIM:616187
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, EEG wi... OMIM:614018
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Inability to walk, Bilateral tonic-clonic seizure OMIM:619639
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Seizure, Focal... ORPHA:599373
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality OMIM:608636
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Truncal ataxia, Absence seizure... OMIM:618587
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Arthrogryposis Multiplex Congenita 6
Death in childhood, Akinesia, Death in infancy, Neonatal death, Respiratory failure, Arthrogrypos... OMIM:619334
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, EEG with focal sharp slow waves, Bilat... ORPHA:2382
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Centralopathic Epilepsy
EEG with centrotemporal focal spike waves, Focal-onset seizure, Nocturnal seizures, Bilateral ton... OMIM:117100
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617389
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl... OMIM:617113
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Ataxia, EEG abnormality OMIM:614322
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, EEG with focal sharp waves, Bilateral tonic-clonic seizure with foc... ORPHA:163721
Developmental And Epileptic Encephalopathy 91
Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Seizure, Focal motor seizure... OMIM:617711
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure... OMIM:266100
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:162350
Glycine Encephalopathy 2
Respiratory failure, EEG with burst suppression OMIM:620398
Developmental And Epileptic Encephalopathy 42
Athetosis, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:617106
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Jejunal Atresia
Abnormal abdomen morphology, Jejunal atresia OMIM:243600
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Myoclonic absence seizure, Increased theta frequency activity ... OMIM:619000
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic s... ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, ... ORPHA:208441
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory insufficiency due to muscle weakness, Loss of ambulation, Flexi... OMIM:300717
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Myo... OMIM:616540
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Muscular Hypertonia, Lethal
Pneumonia, Hypokinesia, Death in infancy, Umbilical hernia OMIM:254120
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxia, Myoclonic se... OMIM:620145
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebellar ataxia, Focal E... ORPHA:263516
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Stat... OMIM:619701
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon... OMIM:611726
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myocl... OMIM:616139
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inability to walk, Seizur... ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Status epilepticus withou... OMIM:204300
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Multifocal epileptiform discharges, Focal-onset seizure, Inability to walk, Hypsarrh... OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Hyperekplexia 4
Inguinal hernia, Hypsarrhythmia, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbil... OMIM:618011
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Miller-Dieker Syndrome
EEG abnormality, Ataxia, Omphalocele ORPHA:531
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Short s... OMIM:617836
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, EEG ... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia OMIM:620317
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Bilateral tonic-clonic seizure, Gait ... OMIM:617810
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laughing, Bilate... ORPHA:293181
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp... ORPHA:240094
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia OMIM:617862
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, ... OMIM:618090
Immunodeficiency 95
Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p... OMIM:619773
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis OMIM:615294
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit... OMIM:615710
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Splenomegaly ORPHA:664
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Omphalocele
Omphalocele ORPHA:660
Fetal Akinesia Deformation Sequence
Akinesia, Respiratory insufficiency, Arthrogryposis multiplex congenita, Camptodactyly of finger,... ORPHA:994
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic ... OMIM:618012
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Multifocal epileptiform discharges... OMIM:609056
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Congenital Myopathy 12
Akinesia, Camptodactyly, Jaw contracture, Pulmonary artery stenosis, Death in infancy, Respirator... OMIM:612540
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Bilateral t... OMIM:607876
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, EEG with burst suppression OMIM:618328
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, EEG with focal spikes, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Grow... ORPHA:488635
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Inability to walk, Abnormal peripheral action... ORPHA:90117
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia ORPHA:98764
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Acute Interstitial Pneumonia
Ground-glass opacification, Atelectasis, Peribronchovascular interstitial thickening, Pleural eff... ORPHA:79126
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Respiratory insufficiency due to mu... OMIM:618184
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Difficulty walking, Atelectasis, Recurrent respiratory infections, Br... OMIM:610978
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Joint contracture, Death in childhood OMIM:616081
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocl... OMIM:618497
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Choreoathetosis... OMIM:616981
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, ... OMIM:226750
Unilateral Focal Polymicrogyria
Simple febrile seizure, EEG with parietal focal spikes, Abnormality of somatosensory evoked poten... ORPHA:268947
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, EEG with spike-wave co... ORPHA:168491
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly OMIM:608971
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Unsteady gait, Dysmetria OMIM:203740
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Athetosis, Bilateral tonic-clonic seizure, Atonic seizure... ORPHA:382
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with spike-wave complexes... ORPHA:79137
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Polysplenia, Duodenal atresia OMIM:619608
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Seizure, Bilateral tonic-clonic seizure, Growth delay, Multifocal e... ORPHA:209370
Gombo Syndrome
Microphthalmia OMIM:233270
Perry Syndrome
Respiratory insufficiency, Respiratory arrest, Akinesia, Short stepped shuffling gait OMIM:168605
Congenital Myopathy 9A
Akinesia, Death in infancy OMIM:618822
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Foxg1 Syndrome
Focal-onset seizure, Difficulty walking, Inability to walk, Severe postnatal growth retardation, ... ORPHA:561854
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Focal-onset seizure, Inability to walk OMIM:618760
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Lissencephaly 3
Seizure, Ataxia, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Hypsarrhythmia, Focal tonic sei... OMIM:617105
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Pulmonary sequestrati... ORPHA:70589
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Bilateral trilobed lung, Omphalocele OMIM:613630
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ... OMIM:615859
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, EEG with multifocal slow activity, Bilateral tonic-clonic s... ORPHA:289266
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Hypokinesia, Increased connective tissue ORPHA:238329
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:2141
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Respiratory insufficiency due to muscle weakness, Neonatal... OMIM:611890
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Osteoporosis, Biliary tract abnor... ORPHA:79301
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Short stature, Dysmetria OMIM:615031
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Developmental And Epileptic Encephalopathy 106
Postnatal growth retardation, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Fo... OMIM:620028
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Gait ataxia ORPHA:98773
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... ORPHA:64743
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia OMIM:616570
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper... OMIM:612714
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Inability to walk ORPHA:266
Congenital Disorder Of Glycosylation, Type Iaa
Intrauterine growth retardation, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Impaired tandem gait OMIM:300423
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Bilateral tonic-clonic seizure OMIM:618425
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Anemia, Duodenal atresia ORPHA:3405
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:618917
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Amyotrophic Lateral Sclerosis 28
Respiratory failure, Difficulty walking OMIM:620452
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Camptodactyly of finger, Abnormal motor nerve con... OMIM:614399
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Abnormal peripheral action potential ampl... ORPHA:457205
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Focal myoclonic seizure, Difficulty walking, Seizure, Waddling gai... ORPHA:464282
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, EEG with focal spikes, Se... ORPHA:485350
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Acalvaria
Abnormal lung lobation, Omphalocele ORPHA:945
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Nemaline Myopathy 8
Respiratory failure, Flexion contracture, Death in infancy OMIM:615348
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Ataxia OMIM:607454
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure, EEG ... OMIM:617290
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Hypokinesia OMIM:300816
Peho-Like Syndrome
Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Congenital Myopathy 14
Elbow flexion contracture, Death in infancy, Hip contracture, Respiratory insufficiency due to mu... OMIM:618414
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Bilate... OMIM:612164
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Loss of ambulation, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, EEG... ORPHA:529665
Huntington Disease-Like 1
Abnormal posturing, Seizure, Gait disturbance, Gait ataxia, EEG abnormality, Dysmetria ORPHA:157941
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Parkinson Disease 17
Akinesia OMIM:614203
New-Onset Refractory Status Epilepticus
Multifocal epileptiform discharges, EEG with spike-wave complexes, Seizure precipitated by febril... ORPHA:363558
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Omphalocele OMIM:614450
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Arthrogryposis Multiplex Congenita 5
Akinesia, Inguinal hernia, Elbow flexion contracture, Camptodactyly, Death in infancy, Flexion co... OMIM:618947
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Hypokinesia, Gait disturbance OMIM:606693
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Seizure, Gait disturbance ORPHA:216866
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Exaggerated startle response, Co... ORPHA:309246
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure ORPHA:70587
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat... OMIM:607765
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Pulmonary hypoplasia, Flexion contracture OMIM:253290
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus, EE... OMIM:613970
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1263
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Death in infancy, Neonatal d... OMIM:265120
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Akinesia, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Ataxia ORPHA:247234
Gaucher Disease, Perinatal Lethal
Akinesia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Hypokinesia OMIM:608013
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Bilateral tonic-clo... ORPHA:1945
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Choreoathetosis ORPHA:726
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Intermediate Nemaline Myopathy
Difficulty walking, Flexion contracture, Respiratory failure, Arthrogryposis multiplex congenita,... ORPHA:171433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co... OMIM:613101
Corticobasal Syndrome
Akinesia, Gait disturbance ORPHA:454887
Cerebral Creatine Deficiency Syndrome 2
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612736
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Difficulty walking, Respiratory insufficiency, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Multifocal epileptiform discharges, Inability to walk, Seizure, Bilateral tonic-clonic seizure, G... ORPHA:488613
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Duodenal Atresia
Duodenal atresia OMIM:223400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Seizure,... ORPHA:98795
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Dk1-Cdg
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, S... ORPHA:91131
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Ataxia, Myoclo... ORPHA:313772
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Athetosis, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, ... OMIM:617493
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ... OMIM:121300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
EEG abnormality, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal impaired awareness sei... OMIM:301058
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of connective tissue, Respiratory insufficiency, Loss of ambulation, Respiratory fail... ORPHA:370968
Nanophthalmos
Microphthalmia ORPHA:35612
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Dysmetria, Bilateral tonic-clonic seizure OMIM:620453
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Omphalocele OMIM:275100
Tracheobronchopathia Osteochondroplastica
Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent res... ORPHA:3348
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure ORPHA:53583
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneumonia, Recurrent ... ORPHA:60032
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death, Ataxia OMIM:610127
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele OMIM:601163
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia OMIM:605407
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Ataxia, Spasti... OMIM:614487
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Ataxia, EEG with abnormally slow frequencies, Respiratory failure, Multifocal ... ORPHA:70472
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Lymphangiectasis, Cirrhosis, Hepatomegaly, Protein-losing enteropathy, Hyperinsuline... OMIM:602579
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Abnormal flash visual evoked potentials, Abnormal nerve conduction... ORPHA:98755
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Feingold Syndrome
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia ORPHA:1305
Infantile Cerebellar-Retinal Degeneration
Athetosis, Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure OMIM:614559
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Postencephalitic Parkinsonism
Diminished movement, Akinesia ORPHA:97349
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Abn... ORPHA:1414
Severe Canavan Disease
Seizure, Inability to walk, Bilateral tonic-clonic seizure ORPHA:314911
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia, Inguinal hernia OMIM:620326
Nanophthalmos 4
Microphthalmia OMIM:615972
Spinocerebellar Ataxia 48
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Gait ataxia OMIM:618093
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Pneumocystosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf... ORPHA:723
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Inability to walk, Respiratory insuffi... ORPHA:258
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, N... OMIM:610913
Diarrhea 9
Villous atrophy OMIM:618168
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Bilateral tonic-clonic seizure, Atonic seizure, Unsteady gai... ORPHA:93952
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:619877
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Umbilical hernia, Joint contracture of the hand OMIM:175700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Loss of ambulation, Focal clonic seizure OMIM:617933
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Omphalocele OMIM:617895
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure, Hip contracture, Knee flexion contracture OMIM:313420
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Death in childhood OMIM:619147
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Respiratory t... ORPHA:244
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ... ORPHA:424019
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Focal-onset seizure, Seizure, Titubation, Gait disturbance, Gait ataxia, Atyp... ORPHA:225147
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Hypsarrhythmia, EEG with focal spikes, Seizure, Infantile spasms, EEG with foc... ORPHA:79243
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Flexion contracture, Respiratory failure, Neonatal respiratory distress, Ar... OMIM:616867
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Distal Duplication 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Omphalocele, Pulmonary hypoplasia, Flexi... OMIM:263210
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Joint contracture OMIM:225790
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, Portal hypertension, Hyper... ORPHA:79319
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp... ORPHA:2357
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint... ORPHA:131
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e... ORPHA:2902
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Nonprogressiv... OMIM:117360
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Growth delay, Myoclonic seizure OMIM:615716
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Enterocolitis, Vol... ORPHA:95427
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, EEG with occipital epileptiform discharges, Ga... ORPHA:254881
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology ORPHA:281090
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Hypokinesia OMIM:620007
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hypercholanemia, Familial 1
Rickets, Steatorrhea, Fat malabsorption OMIM:607748
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R... OMIM:608647
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Decreased motor nerve conduction velocity, Neonatal death, Limb joint ... OMIM:618186
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Neonatal respiratory distress, Hypokinesia, Congenital contracture OMIM:615042
Trigonocephaly 1
Omphalocele OMIM:190440
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Hypokinesia, Gait disturbance OMIM:609161
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis... ORPHA:329971
Aceruloplasminemia
Limb ataxia, Akinesia, Ataxia, Gait ataxia ORPHA:48818
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia, Omphalocele OMIM:618316
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia, Abnormal mesentery morphology, Abdominal situs ... ORPHA:1198
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Leuko... ORPHA:2070
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph... OMIM:614162
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, EEG with burst suppression ORPHA:168486
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Loss of ambulation OMIM:613435
Sulfite Oxidase Deficiency, Isolated
Multifocal epileptiform discharges, Choreoathetosis, Ataxia, Bilateral tonic-clonic seizure OMIM:272300
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st... OMIM:612526
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Multifo... OMIM:618170
Idiopathic Pulmonary Hemosiderosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pul... ORPHA:99931
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Spinocerebellar Ataxia Type 12
Gait disturbance, Unsteady gait, Ataxia, Limb dysmetria, Hypokinesia ORPHA:98762
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Dpagt1-Cdg
Akinesia, Inability to walk, Hypsarrhythmia, Camptodactyly, Pulmonary hypoplasia, Flexion contrac... ORPHA:86309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ... OMIM:616050
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... OMIM:616100
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Recurrent upper respiratory tract infections, Desquamative interstitial pneu... OMIM:263000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... OMIM:618892
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Duodenal stenosis ORPHA:1759
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Auriculocondylar Syndrome 2B
Neonatal respiratory distress, Omphalocele OMIM:620458
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Osteoporosis, Diabetes mellitus, Sple... OMIM:235200
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Omphalocele, Flexion ... ORPHA:254528
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypsarrhythmia, EEG with focal sharp slow waves, Tonic seizure, Bilateral tonic-clonic seizure, M... OMIM:619983
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Developmental And Epileptic Encephalopathy 89
Death in childhood, Hypsarrhythmia, Omphalocele, Neonatal death, Flexion contracture, EEG with bu... OMIM:619124
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Hypokinesia OMIM:610498
Gracile Bone Dysplasia
Ascites, Decreased skull ossification, Ankyloglossia, Asplenia, Hypoplastic spleen OMIM:602361
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Gait ataxia, Reduced subcutaneous adipose tissue, Ataxia, Reduced intr... ORPHA:363400
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Muscular Dystrophy, Congenital, With Or Without Seizures
Interictal epileptiform activity, Respiratory failure, Loss of ambulation, Ataxia OMIM:620166
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, EEG with continuous slow activity, Bilateral tonic-clonic seizure ORPHA:275864
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Adams-Oliver Syndrome 6
Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension OMIM:616589
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Hepatomegaly, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Hyperekplexia 1
Exaggerated startle response, Hypokinesia, Inguinal hernia, Umbilical hernia OMIM:149400
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure, Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa... OMIM:618935
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Bile duct proliferation, Hepatosplenomegaly, Fat malabsorption ORPHA:79302
Mirage Syndrome
Anemia, Radial club hand, Gastroesophageal reflux, Hypoplastic spleen, Thrombocytopenia, Leukopen... OMIM:617053
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:600721
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
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Iron deficiency anemia, Gastric ulcer OMIM:618372
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Difficulty walking, Achilles tendon contracture, Respiratory failure, Elbow contrac... OMIM:606612
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Inguinal hernia, Morgagni diaphragmatic hernia, Death... OMIM:613177
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Beta-Thalassemia Intermedia
Osteopenia, Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Cholelithiasis, Anem... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Brown-Vialetto-Van Laere Syndrome 2
Respiratory insufficiency, Ataxia, Hypokinesia OMIM:614707
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic spasms, Loss of am... ORPHA:79264
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Choreoathetosis, Episodic ataxia OMIM:312170
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Kagami-Ogata Syndrome
Inguinal hernia, Diastasis recti, Omphalocele, Pulmonary hypoplasia, Flexion contracture OMIM:608149
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ... ORPHA:381
Short-Rib Thoracic Dysplasia 12
Atelectasis, Inguinal hernia, Respiratory insufficiency, Omphalocele, Neonatal death, Pulmonary h... OMIM:269860
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Mmep Syndrome
Microphthalmia ORPHA:3434
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Growth delay, Febrile sei... OMIM:618010
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Short stature OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Myoclonus, Generalized non-motor (absence... OMIM:616973
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Steppage gait, Gait ataxia, Ataxia, Flexion contracture, Respiratory failure, Dysmetria OMIM:616505
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita OMIM:615330
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Titubation, Dystonic gait, Ataxia, Respiratory failure ORPHA:280210
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me... OMIM:618394
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha... OMIM:278000
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis ORPHA:896
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Arthrogryposis multiplex congenita, Ataxia ORPHA:2254
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Flexion contracture, Increased connective tissue, Respiratory failure, Arth... ORPHA:171430
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Ullrich Congenital Muscular Dystrophy
Respiratory failure, Elbow flexion contracture, Flexion contracture, Knee flexion contracture ORPHA:75840
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Waddling gait, Hamstring contractures, Achilles tendon contracture, Respiratory ins... OMIM:310200
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Alg6-Cdg
Abnormality of the liver, Jaundice, Protein-losing enteropathy, Macroglossia ORPHA:79320
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Type I ... OMIM:304790
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion OMIM:613885
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Seizure, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:457240
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Melnick-Needles Syndrome
Respiratory insufficiency, Recurrent respiratory infections, Omphalocele ORPHA:2484
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Glycogen Storage Disease Ixb
Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Farber Disease
Atelectasis, Respiratory insufficiency, Diffuse reticular or finely nodular infiltrations, Flexio... ORPHA:333
Caudal Duplication
Omphalocele ORPHA:1756
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Diastasis recti, Omphalocele ORPHA:254534
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele OMIM:601357
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Respiratory failure, Ventilator dependence with inability to wean, Decre... OMIM:604320
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... OMIM:612840
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Cleft palate, Jejunal atresia, Duodenal atresia OMIM:243605
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Gait disturbance, Loss of ambulation, Ataxia, Respiratory failure OMIM:615838
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du... OMIM:613812
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Pulmonary fibrosis, Pneumonia, ... ORPHA:449280
Mednik Syndrome
Cirrhosis, Cholestasis, Microcolon, Volvulus, Hepatic fibrosis, Jejunal atresia OMIM:609313
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Respiratory f... ORPHA:178320
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Ataxia, Death in infancy OMIM:614299
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Ataxia, Dysmetria, Broad-based gait OMIM:618233
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux ORPHA:2414
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure w... OMIM:610042
Hereditary Late-Onset Parkinson Disease
Akinesia, Shuffling gait ORPHA:411602
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1834
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Portal hypertension, Microcolon OMIM:619431
Proximal Spinal Muscular Atrophy
Difficulty walking, Multiple joint contractures, Inability to walk, Elbow flexion contracture, Re... ORPHA:70
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Craniosynostosis, Gastroe... OMIM:147060
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion... OMIM:614700
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Ataxia OMIM:256000
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Infantile spasms, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure... ORPHA:544503
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Down Syndrome
Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Leukemia, Abnormality of the lymph... ORPHA:870
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Lymphatic Malformation 12
Pleural thickening, Inguinal hernia, Death in adolescence, Recurrent upper and lower respiratory ... OMIM:620014
Combined Oxidative Phosphorylation Deficiency 1
Hypokinesia OMIM:609060
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Alfadhel Syndrome
Short stature, Seizure, Bilateral tonic-clonic seizure OMIM:620655
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Difficulty walking OMIM:613954
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Interictal epileptiform activity, EEG with focal spikes, Seizure, EEG with g... ORPHA:163681
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia OMIM:300514
Sandestig-Stefanova Syndrome
Respiratory failure, EEG abnormality, Camptodactyly OMIM:618804
Avian Influenza
Ground-glass opacification, Pneumothorax, Miscarriage, Pleural effusion, Pneumonia, Respiratory f... ORPHA:454836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
Unilateral Polymicrogyria
Abnormal posturing, Focal-onset seizure, Generalized tonic seizure, Seizure, Infantile spasms, Gi... ORPHA:268943
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Myoclonic seizure, Foca... OMIM:618325
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Congenital pyloric atresia ORPHA:2617
Canavan Disease
Hypsarrhythmia, Epileptic spasm, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure OMIM:271900
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Gait ataxia, M... OMIM:619580
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Aromatic L-Amino Acid Decarboxylase Deficiency
EEG abnormality, Joint contracture, Hypokinesia ORPHA:35708
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Congenital Myopathy 10B, Mild Variant
Difficulty walking, Achilles tendon contracture, Recurrent pneumonia, Respiratory failure, Elbow ... OMIM:620249
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Spastic ataxia, Bilateral tonic-clonic seizure ORPHA:199354
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Abnormal adipose tissu... ORPHA:2092
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Hypsar... ORPHA:457351
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Achilles tendon contracture, Difficulty walking OMIM:603689
Adult Acute Respiratory Distress Syndrome
Pneumonia, Respiratory failure, Pulmonary infiltrates, Pulmonary edema ORPHA:70578
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Feingold Syndrome 1
Annular pancreas, Gastrointestinal atresia, Esophageal atresia, Accessory spleen, High palate, Tr... OMIM:164280
Esophageal Atresia
Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo... ORPHA:1199
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Omphalocele OMIM:145420
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Ascites, Hypoplastic colon, Cra... OMIM:200995
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement ORPHA:240103
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Recurrent respiratory infections, Atelectasis ORPHA:2314
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal... ORPHA:848
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Omphalocele ORPHA:261344
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxia, Dysmetria OMIM:602481
Cofs Syndrome
Microphthalmia ORPHA:1466
Carpenter Syndrome 1
Joint contracture of the hand, Omphalocele, Camptodactyly, Umbilical hernia OMIM:201000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Ataxia, Pulmonary fibrosis, Resp... OMIM:607625
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
D-Glyceric Aciduria
Hypsarrhythmia, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Growth delay, Focal clonic se... OMIM:220120
Attenuated Familial Adenomatous Polyposis
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... ORPHA:220460
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Adams-Oliver Syndrome 5
Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism OMIM:616028
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Growth delay OMIM:614857
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Fibrochondrogenesis 1
Stillbirth, Omphalocele, Camptodactyly, Joint contracture of the hand OMIM:228520
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Hypokinesia, Gait ataxia ORPHA:101150
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha... ORPHA:891
Chromosome 10Q26 Deletion Syndrome
Broad-based gait, Omphalocele OMIM:609625
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:619725
American Trypanosomiasis
Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Splenomegaly, Achalasia ORPHA:3386
Congenital Toxoplasmosis
Microphthalmia, Ascites ORPHA:858
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Fibrochondrogenesis
Respiratory insufficiency, Camptodactyly of finger, Omphalocele ORPHA:2021
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Respiratory failure, Flexion contracture, Death in infancy ORPHA:1194
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Craniosynostosis, High palate ORPHA:314575
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Gait disturbance OMIM:250940
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Omphalocele OMIM:616300
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Glycosuria... ORPHA:552
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp... ORPHA:779
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Asplenia, Intestinal malrotat... ORPHA:210122
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Camptodactyly, Omphalocele OMIM:618529
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:306000
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Protein-losing enteropathy, Cholestasis, Ascites, Thrombocytopenia OMIM:608104
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointes... OMIM:175500
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Hyperinsulinemia, Ileus, Osteoporosis, Pyloric stenosis, Splenomegaly, ... OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617600
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Whim Syndrome
Limb ataxia, Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recur... ORPHA:51636
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Glycogen Storage Disease Due To Acid Maltase Deficiency
Difficulty walking, Atelectasis, Inability to walk, Respiratory insufficiency, Respiratory insuff... ORPHA:365
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Postnatal growth retardation, Generalized myoclonic seiz... OMIM:300912
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Decreased distal sensory nerve action potential OMIM:606071
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Inability to walk, Respiratory insufficiency, Hypsarrhythmia, Pulmonary artery atres... OMIM:620371
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu... OMIM:618278
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Elbow flexion contracture, Pulmonary artery atresia, Omphalocele... ORPHA:1692
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Triploidy
Omphalocele ORPHA:3376
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Clef... OMIM:235255
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Protein-losing enteropathy, Macroglossia OMIM:618440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:614207
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:300607
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Inability to walk OMIM:128100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Villous atrophy OMIM:600955
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Hypokinesia, Neonatal respiratory distress, F... OMIM:310400
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... OMIM:156530
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Por... OMIM:610199
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonged neonat... ORPHA:79303
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Colon cancer, Hematochezia, Intussusception, Du... OMIM:174900
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Congestive heart failure, Microphthalmia, Umbilical hernia ORPHA:2505
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Chromosome 9P Deletion Syndrome
Inguinal hernia, Omphalocele OMIM:158170
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Flexion con... OMIM:618291
Autoimmune Hepatitis
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Fulmin... ORPHA:2137
Vacterl/Vater Association
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:887
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Huntington Disease
Difficulty walking, Inability to walk, Gait imbalance, Gait disturbance, Hypokinesia ORPHA:399
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Repeated pneumothoraces, Respiratory insufficiency, Atrophic scars, Pulmonary hypopl... ORPHA:536467
Pierpont Syndrome
Microphthalmia ORPHA:487825
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Difficulty walking, Inability to walk, Seizure, Bilateral tonic-clonic s... ORPHA:481152
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Cog8-Cdg
Hypoglycemia, Protein-losing enteropathy ORPHA:95428
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Falls OMIM:609454
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Camptodactyly, Omphalocele, Recurrent aspiration pneumonia, Abnormality of the a... OMIM:247200
Jaberi-Elahi Syndrome
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Choreoathetosis... OMIM:617988
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Gastritis, Anoperineal fistula, B lymph... OMIM:619381
Fryns Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Ectopic anus, High palate, Anal atresia, Intestin... ORPHA:2059
Metachromatic Leukodystrophy
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... ORPHA:512
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Shagreen pat... ORPHA:538
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Pulmonary arterial hypertension OMIM:300887
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Fasting hypoglycemia, E... ORPHA:264580
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Osteolytic defects of the phalanges of the hand, Gastr... ORPHA:90291
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Fanconi Anemia, Complementation Group F
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Duodenal atresia OMIM:603467
Constricting Bands, Congenital
Abnormal lung lobation, Bladder exstrophy, Gastroschisis, Omphalocele OMIM:217100
Warburg Micro Syndrome 3
Postnatal growth retardation, Myoclonic seizure, Inability to walk, Bilateral tonic-clonic seizure OMIM:614222
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Ventral hernia, Omphalocele OMIM:313850
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Diffuse reti... ORPHA:79127
Typical Nemaline Myopathy
Respiratory insufficiency, Waddling gait, Gait disturbance, Flexion contracture, Arthrogryposis m... ORPHA:171436
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Poliomyelitis
Respiratory failure requiring assisted ventilation, Inability to walk, Abnormal motor nerve condu... ORPHA:2912
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Athetosi... ORPHA:79351
Pierpont Syndrome
Microphthalmia OMIM:602342
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Growth delay, Febrile se... OMIM:617798
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:2759
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Ataxia, Hypokinesia, Broad-based gait OMIM:617854
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Type II diabetes mellitus, Type I diabetes... ORPHA:1133
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Congenital Multicore Myopathy With External Ophthalmoplegia
Flexion contracture, Increased connective tissue, Pneumonia, Respiratory failure, Recurrent respi... ORPHA:98905
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Inguinal hernia, Respiratory insufficiency, Abnormal dental enamel morphology, Death... ORPHA:534
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia, Omphalocele OMIM:617022
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Hartsfield Syndrome
Microphthalmia, Encephalocele ORPHA:2117
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Inability to walk, EEG with burst suppression, Seizure, Bilateral tonic-clon... OMIM:618143
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with spike-wave complexes, EEG with polyspike wave complexes, Seizure, Gait disturbance, Bila... ORPHA:247262
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Hepa... ORPHA:1655
Microform Holoprosencephaly
Cleft palate, Maternal diabetes, Duodenal atresia ORPHA:280200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea ORPHA:3217
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Subpleural interstitial thickening,... ORPHA:60025
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Falls OMIM:601104
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bilateral tonic-clonic sei... ORPHA:42
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Seckel Syndrome 2
Microphthalmia, Heart murmur OMIM:606744
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Ileus ORPHA:163746
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Seizure, Inf... OMIM:620224
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa... ORPHA:91138
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Gait disturbance, Choreoathetosis OMIM:234200
Mungan Syndrome
Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum OMIM:611376
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Short stature, Ataxia OMIM:619435
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Abnormality of abdominal situ... ORPHA:1666
Alg11-Cdg
Hypokinesia, Ataxia, EEG with burst suppression, Abnormal adipose tissue morphology ORPHA:280071
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... ORPHA:98849
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Growth delay, Ataxia... OMIM:617193
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Diastasis recti, Pleural effusion, Pulmonary artery dilatation, Omphaloce... OMIM:265380
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Loss of ambulation, Progressive gait ... ORPHA:329308
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Prolonged neonatal jaundice, Hemato... OMIM:214950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:615398
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Neonatal death, Bilateral tonic-clonic seizure, Generalized-onset ... OMIM:615501
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Exaggerated startle response, Cardiorespiratory arrest, Diminished movement, Choreoath... OMIM:608643
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Re... OMIM:617301
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Gastriti... ORPHA:809
Zygomycosis
Pneumothorax, Atelectasis, Acute infectious pneumonia, Pleural effusion, Parenchymal consolidatio... ORPHA:73263
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:1335
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Monosomy 18P
Microphthalmia, Hypertension, Lymphedema ORPHA:1598
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Status epilepticus ORPHA:364028
Combined Oxidative Phosphorylation Deficiency 27
Multifocal epileptiform discharges, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616672
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Death in infancy, Omphalocele ORPHA:2241
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Stomach cancer, Ascites, Acute lymphoblastic leukemia, Cleft palate, Colon ... ORPHA:1052
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology ORPHA:2470
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:3226
Hypermanganesemia With Dystonia 2
Tip-toe gait, Scissor gait, Inability to walk, Gait disturbance, Achilles tendon contracture, Lim... OMIM:617013
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte... OMIM:263200
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Sandhoff Disease, Infantile Form
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:309155
Developmental And Epileptic Encephalopathy 49
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, EEG abnormality, Clo... OMIM:617281
Primary Sclerosing Cholangitis
Adenocarcinoma of the large intestine, Cholestasis, Ascites, Splenomegaly, Type I diabetes mellit... ORPHA:171
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Omphalocele, Inguinal hernia, Umbilical hernia OMIM:618454
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal myoclonic seizure, Seizure, Athetosis, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:369929
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure, Mild short stature OMIM:169400
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Gait disturbance, Recu... ORPHA:420741
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Falls, Recurrent pn... ORPHA:209905
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Infantile spasms, Bilateral tonic-clonic seizure, Decreased ... OMIM:618733
C Syndrome
Omphalocele OMIM:211750
Pearson Syndrome
Steatorrhea, Hepatomegaly, Anemia, Pancytopenia, Median cleft palate, Reticulocytosis, Bone marro... ORPHA:699
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Hypokinesia ORPHA:2077
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure ORPHA:98913
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Gaucher Disease Type 1
Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruct... ORPHA:77259
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly... OMIM:620565
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure ORPHA:453510
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ... OMIM:615512
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Truncal ataxia, Respiratory insufficiency due to muscle weakness, Ataxia, Res... OMIM:220110
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia ORPHA:2189
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Atelectasis, Pulmonary artery steno... OMIM:615067
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Marshall-Smith Syndrome
Death in childhood, Aspiration pneumonia, Omphalocele, Umbilical hernia, Recurrent aspiration pne... OMIM:602535
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Osteoporosis, Inflammation... OMIM:232220
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... ORPHA:457077
Infantile Dystonia-Parkinsonism
Hypokinesia ORPHA:238455
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis, Abdominal adhesions, Lymphopenia, Neutropenia OMIM:616395
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Adenomatous colonic polyposis OMIM:617100
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... ORPHA:2334
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car... ORPHA:186
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Jaundice, Intestinal obstruction, Incr... ORPHA:913
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Portal hypertension, Osteoporosis, Hyperglycem... ORPHA:465508
Pagod Syndrome
Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Omphalocele, Death in infancy, Pulm... ORPHA:991
Fryns Syndrome
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat... OMIM:229850
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture, Exaggerated startle response OMIM:620327
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Respiratory failure, Delayed brainstem auditory evoked r... ORPHA:206436
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Distal Deletion 12Q
High, narrow palate, Annular pancreas, Maturity-onset diabetes of the young, Esophageal atresia, ... ORPHA:96149
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Hypokinesia, Death in infancy OMIM:613320
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Choreoathetosis ORPHA:445038
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Undetectable visual evoked potentials, Bilateral tonic-clonic se... ORPHA:423479
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Omphalocele, Recurrent aspiration pneumonia, Um... ORPHA:2745
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n... ORPHA:79076
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Cerebellar ataxia associated with quadrupedal... ORPHA:268940
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Melnick-Needles Syndrome
Stillbirth, Recurrent respiratory infections, Gait disturbance, Omphalocele OMIM:309350
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Temtamy Syndrome
Microphthalmia ORPHA:1777
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycemia, Ketotic hypoglycem... ORPHA:79240
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Chylothorax, Death in infancy, Joint contracture, Respiratory failure, Joint ... OMIM:620278
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Holoprosencephaly
Respiratory insufficiency, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Omph... ORPHA:2162
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom... ORPHA:424016
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood, Ataxia OMIM:617186
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Elbow flexion contracture, Death in infancy, Knee flexion contracture,... OMIM:608836
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Japanese Encephalitis
Interictal epileptiform activity, EEG abnormality, Focal motor seizure, Decreased motor nerve con... ORPHA:79139
Bone Marrow Failure Syndrome 5
Short stature, Bilateral tonic-clonic seizure, Growth delay OMIM:618165
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Ataxia, Respiratory fail... ORPHA:496641
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
African Trypanosomiasis
Akinesia, Difficulty walking, Miscarriage, Gait disturbance, Choreoathetosis ORPHA:3385
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Decreased motor nerve conduction velocity, Re... ORPHA:79138
Lowry-Maclean Syndrome
Osteopenia, High, narrow palate, Midgut malrotation, Abnormality of the abdominal organs, Osteopo... ORPHA:2409
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Oligohydramnios, Encephalocele ORPHA:228390
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... ORPHA:391487
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Trisomy 18
Congenital diaphragmatic hernia, Camptodactyly of finger, Hernia, Omphalocele ORPHA:3380
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Pulmonary hypoplasia, Omphalocele ORPHA:90652
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Granulomatous Disease, Chronic, X-Linked
Air bronchogram, Atelectasis, Pleural effusion, Recurrent pneumonia, Cellulitis OMIM:306400
Snakebite Envenomation
Respiratory failure ORPHA:449285
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... OMIM:153400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Generalized-onset seizure, Tonic seizure, B... OMIM:620024
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Sandifer Syndrome
Abnormal posturing, Hiatus hernia ORPHA:71272
Robinow Syndrome, Autosomal Dominant 3
Pulmonary artery atresia, Camptodactyly, Omphalocele OMIM:616894
Pseudotrisomy 13 Syndrome
Omphalocele OMIM:264480
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Posteriorly placed anus, Polysplenia, Asplenia, A... OMIM:306955
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Arrhythmia ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Tricuspid regurgitation OMIM:618652
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory... ORPHA:3342
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory failure, Inability to walk, Cardiorespiratory arrest ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia, At... OMIM:620451
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia, Lipodystrophy, Omphalocele ORPHA:79328
Feingold Syndrome Type 1
Gastrointestinal atresia, Esophageal atresia, Anal atresia, Jejunal atresia, Duodenal atresia ORPHA:391641
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Trisomy 13
Hydrops fetalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Congenital Fibrinogen Deficiency
Tachycardia, Microphthalmia, Internal hemorrhage ORPHA:335
Joubert Syndrome 22
Microphthalmia OMIM:615665
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Duodenal atresia OMIM:614114
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intestinal malrotation, Abdominal situs ambiguus, Abdominal situs inversus, Duodenal at... OMIM:270100
Leigh Syndrome
Hypsarrhythmia, Athetosis, Ataxia, Choreoathetosis, Respiratory failure, Multiple joint contractures ORPHA:506
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Anal atresia, Intestinal mal... OMIM:115470
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Neonatal death, Bilateral tonic-clonic seizure OMIM:620300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Respiratory insuff... ORPHA:308552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Inflammation of ... OMIM:615895
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Abnormal cortical bone morpholog... ORPHA:2796
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Rectal prolapse, Protei... OMIM:235510
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... ORPHA:435638
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Omphalocele, Umbilical hernia ORPHA:2166
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:618494
Mosaic Variegated Aneuploidy Syndrome 1
Cleft palate, Leukemia, Duodenal atresia OMIM:257300
Glass Syndrome
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Short stature, Febrile seizure (within... OMIM:612313
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation... ORPHA:2929
Boutonneuse Fever
Respiratory failure ORPHA:83313
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Hypoglycemia, Frequent Giardia lamblia infestation OMIM:615577
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Short stature, Growth delay, Atonic s... OMIM:617799
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Cardiomyopathy, Optic nerve hypoplasia ORPHA:370959
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Gastrointestinal carcinoma, Duodenal polyposis, Adenomatous colonic pol... ORPHA:247806
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Intestinal malrotation, Bone marrow hypocellularity, Pyloric sten... ORPHA:2308
Histiocytoid Cardiomyopathy
Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Pulmona... ORPHA:137675
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Diastasis recti, Camptodactyly, Omphalocele, Pulmonary artery stenosis, Interphalang... ORPHA:96334
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death OMIM:616482
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Common Variable Immunodeficiency
Lymphadenopathy, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopenia, Abnormal... ORPHA:1572
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Gastritis, Iron deficiency anemia, Lymphadenopathy, Reduced proporti... ORPHA:37042
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Vitreoretinochoroidopathy
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization OMIM:193220
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Short stature OMIM:615802
Plasminogen Deficiency, Type I
Duodenal ulcer OMIM:217090
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:373
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Microphthalmia, Encephalocele, Ascites, Portal hypertension, Pulmona... ORPHA:974
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Atelectasis, Inguinal hernia, Abnormal dental enamel morphology, Umbilica... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Tip-toe gait ORPHA:746
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure OMIM:613845
Cloacal Exstrophy
Bladder exstrophy, Cloacal exstrophy, Omphalocele ORPHA:93929
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis ORPHA:330021
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Anemia, Hypophosphatemic rickets, Gastrointestinal hemorrhage, Melena, E... OMIM:276700
Bartsocas-Papas Syndrome 1
Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Flexion contracture, Arthrogryposi... OMIM:263650
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy... ORPHA:729
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Cardiac Diverticulum
Partial anomalous pulmonary venous return, Diastasis recti, Omphalocele, Pulmonary artery stenosi... ORPHA:1686
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Flexion contracture of toe, Camptodactyly, Joint contracture of the hand OMIM:300373
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hypertension, Intracranial hemorrhage OMIM:614424
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Osteoporosis, Trach... ORPHA:1775
Melas
Focal-onset seizure, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Short stature, At... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Death in infancy, Ataxia, Respiratory failure OMIM:610505
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Generalized-onset seizure, Bilateral toni... OMIM:614231
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Temtamy Syndrome
Microphthalmia, Aortic regurgitation OMIM:218340
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
1Q44 Microdeletion Syndrome
Short stature, Bilateral tonic-clonic seizure, Growth delay ORPHA:238769
3Mc Syndrome 1
Abnormality of the abdominal wall, Diastasis recti, Omphalocele OMIM:257920
Gray Platelet Syndrome
Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Codas Syndrome
Enamel hypoplasia, Omphalocele OMIM:600373
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Peritonitis, Microcolon OMIM:619351
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Neonatal hypoglycemi... OMIM:619418
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Omphalocele OMIM:618419
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure, Undetectable visual evoked potentials OMIM:259720
Hermansky-Pudlak Syndrome 10
EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Omphalocele Syndrome, Shprintzen-Goldberg Type
Neonatal respiratory distress, Omphalocele ORPHA:3164
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis OMIM:612852
Chromosome Xp11.3 Deletion Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:300578
Gardner Syndrome
Neoplasm of the pancreas, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Small intest... ORPHA:79665
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Intestinal perforation, Leukocytosis, Reticulocytos... ORPHA:90038
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Esophageal varix, Leukocytosis, Portal hyper... OMIM:615688
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Vici Syndrome
Abnormal posturing, Seizure, Postnatal growth retardation OMIM:242840
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Glycosuria, Diabetes ... OMIM:600001
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele OMIM:611134
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Growth delay, Neonatal death OMIM:252160
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Tricuspid regurgitation, Increased nuchal translucency, ... OMIM:619879
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Athetosis, Bilateral tonic-clonic seizure OMIM:615474
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Undetectable visual evoked potentials, Death in infancy, Ataxia, Respi... OMIM:252010
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Omphalocele OMIM:182210
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Gait disturbance, Gait ataxia, Loss of ambulation, Hypokinesia OMIM:600116
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula... OMIM:300952
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Gait imbalance, Seizure, Gait disturbance, Bilateral tonic-clonic seizure wit... ORPHA:488627
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Sandhoff Disease
Myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure OMIM:268800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t... OMIM:609049
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Hypoplasia of the thymus, Increased mean pla... ORPHA:84064
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Colorectal polyposis, Neopl... ORPHA:733
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Chand Syndrome
Atelectasis, Ataxia ORPHA:1401
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocyto... OMIM:263700
Refsum Disease
Microphthalmia, Heart block, Cardiomyopathy ORPHA:773
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Microphthalmia OMIM:243310
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Omphalocele ORPHA:436252
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Iniencephaly
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele ORPHA:63259
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Fg Syndrome Type 1
Gastroesophageal reflux, High palate, Anal atresia, Abnormal large intestine morphology, Pyloric ... ORPHA:93932
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Small intestine carcinoid, Colon cancer, Desmo... OMIM:175100
Nance-Horan Syndrome
Microphthalmia ORPHA:627
De Sanctis-Cacchione Syndrome
Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Severe short stature, Choreoathetosis OMIM:278800
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Thin bony cortex OMIM:605822
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Gastroesophageal reflux, High palate, Furrowed tongue, Duodenal atresia OMIM:616975
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Cholestasis, Biliary cirrhosis,... OMIM:613471
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Elbow flexion contracture, Aspiration pneumonia, Hip contracture, Resp... ORPHA:2020
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Joubert Syndrome 37
Microphthalmia OMIM:619185
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Inguinal hernia, Respiratory insufficiency... OMIM:613658
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Omphalocele, Umbilical hernia ORPHA:920
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory insufficiency, Omphalocele, Umbilical hernia, Respiratory failure, Elbow ... OMIM:304120
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Menke-Hennekam Syndrome 2
Duodenal ulcer OMIM:618333
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Gastroesophageal reflux, Duodenal atresia ORPHA:464306
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Esophageal varix, Portal hypertension, Copper accumulation in liver, Poly... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Gait disturbance, Abnormal lung morphology, Atax... ORPHA:646
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Digeorge Syndrome
Atelectasis, Inguinal hernia, Femoral hernia, Recurrent pneumonia, Recurrent sinusitis, Umbilical... OMIM:188400
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele ORPHA:1791
Parkinson Disease 1, Autosomal Dominant
Loss of ambulation, Shuffling gait, Hypokinesia, Gait disturbance OMIM:168601
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hypsarrhythmia, Elbow flexion contracture, Death in infancy, Hip contracture, Flexion contracture... OMIM:300868
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Anomalous pulmonary veno... ORPHA:555874
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Truncal ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ato... OMIM:620066
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion ORPHA:3015
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Focal-onset seizure, Inability to walk, Seizure, Increased theta frequency activ... ORPHA:459070
Galloway-Mowat Syndrome 3
Edema, Microphthalmia, Hypertension, Oligohydramnios OMIM:617729
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Heart murmur ORPHA:2728
Meckel Syndrome, Type 1
Camptodactyly of finger, Pulmonary hypoplasia, Omphalocele OMIM:249000
Abetalipoproteinemia
Steppage gait, Broad-based gait, Gait ataxia, Ataxia, Respiratory failure, Dysmetria ORPHA:14
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... ORPHA:369837
Moebius Syndrome
Microphthalmia OMIM:157900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Growth delay, Seizure, Postnatal growth retardation, Bilateral tonic-clonic seizure OMIM:301040
Bloom Syndrome
Bronchitis, Respiratory tract infection, Adipose tissue loss, Pneumonia, Respiratory failure ORPHA:125
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft hard palate, Duodenal... OMIM:301043
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Charge Syndrome
Respiratory insufficiency, Omphalocele, Umbilical hernia ORPHA:138
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Duodenal atresia ORPHA:468631
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Alternating Hemiplegia Of Childhood
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Choreoa... ORPHA:2131
C Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Death in i... ORPHA:1308
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Enamel hypoplasia... OMIM:305600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Duodenal atresia ORPHA:464311
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Gait at... ORPHA:255210
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Cellulitis, Pneumonia, Respiratory failure ORPHA:31204
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal tract, Spleno... ORPHA:29073
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Mosaic Trisomy 9
Microphthalmia, Polyhydramnios, Hydrops fetalis, Spina bifida, Oligohydramnios ORPHA:99776
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Exstrophy-Epispadias Complex
Inguinal hernia, Omphalocele, Bladder exstrophy, Cystocele, Abnormality of the abdominal wall, Cl... ORPHA:322
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Adenomatous colonic polyposis, High palate, Colon cancer, Intestinal blee... ORPHA:261584
Geleophysic Dysplasia 3
Pneumonia, Respiratory failure OMIM:617809
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Polyhydramnios, Septo-optic dysplasia ORPHA:3301
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Peptic ulcer, Reduced bone mineral density, Neoplasm of the pancreas... ORPHA:652
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Martsolf Syndrome 1
Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy OMIM:212720
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye ORPHA:91495
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Rodrigues Blindness
Microphthalmia OMIM:268320
Fraser Syndrome
Abnormal lung lobation, Omphalocele, Death in infancy, Pulmonary hypoplasia, Umbilical hernia ORPHA:2052
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in childhood, Inguinal hernia, Death in infancy, Omphalocele, Umbilical hernia, Neonatal de... OMIM:308205
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Umbilical hernia ORPHA:116
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Chondrodysplasia Punctata 2, X-Linked Dominant
Edema, Microphthalmia, Polyhydramnios OMIM:302960
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure ORPHA:158687
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Omphalocele OMIM:236680
Hennekam Syndrome
Lymphadenopathy, Ascites, Pyloric stenosis, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasi... ORPHA:2136
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, G... OMIM:301044
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Broad-based gait, Seizure, Bilateral toni... ORPHA:268261
Webb-Dattani Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:615926
Autosomal Dominant Progressive External Ophthalmoplegia
Respiratory insufficiency, Gait disturbance, Gait ataxia, Ataxia, Hypokinesia ORPHA:254892
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Incontinentia Pigmenti
Congestive heart failure, Microphthalmia, Spina bifida occulta, Cerebral ischemia, Retinal hemorr... ORPHA:464
Frontonasal Dysplasia 2
Microphthalmia, Oligohydramnios, Encephalocele OMIM:613451
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptodactyly of finger, Recurre... ORPHA:2273
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Listeriosis
Pneumonia, Respiratory failure, Miscarriage, Ataxia ORPHA:533
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Inguinal hernia ORPHA:51890
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Respiratory arrest, Neonatal death, Death in infancy OMIM:617248
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Papillorenal Syndrome
Edema, Microphthalmia, Hypertension OMIM:120330
Holoprosencephaly 7
Omphalocele OMIM:610828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele ORPHA:3186
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Umbilical hernia ORPHA:1519
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset, Short stature, Unsteady gait, Ataxia OMIM:614947
X Small Rings
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension OMIM:616449
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Vacterl With Hydrocephalus
Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida ORPHA:3412
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic se... ORPHA:99885
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Relapsing Polychondritis
Atelectasis ORPHA:728
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Sho... OMIM:619297
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Dilated cardiomyopathy, Microphthalmia, Encephalocele OMIM:253800
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Oeis Complex
Bladder exstrophy, Cloacal exstrophy, Omphalocele OMIM:258040
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abdominal obesity, Obesity, Abnormal fear-induced behavior OMIM:219090
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Joubert Syndrome 21
Respiratory failure, Pulmonary hypoplasia, Ataxia OMIM:615636
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Short stature, Ataxia, Un... OMIM:614756
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Ascites OMIM:618183
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Hyperinsulinemia, Cystic angiomatosis of bone, Acute pancreatitis, Splen... OMIM:608594
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Proportionate short stature OMIM:234100
Hypoplasminogenemia
Duodenal ulcer ORPHA:722
Ablepharon-Macrostomia Syndrome
Ventral hernia, Camptodactyly, Omphalocele OMIM:200110
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligohydramnios OMIM:251230
Marden-Walker Syndrome
Microphthalmia OMIM:248700
D-Bifunctional Protein Deficiency
Seizure, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure OMIM:261515
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... ORPHA:109
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:447997
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morphology, Pancytopenia, Bone... OMIM:181000
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Microphthalmia, Telangiectasia OMIM:278730
Diets-Jongmans Syndrome
Duodenal atresia OMIM:618846
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Beckwith-Wiedemann Syndrome
Diastasis recti, Omphalocele OMIM:130650
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent respiratory infections, Recurrent pneumonia, Recurrent sinopulmona... ORPHA:647
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Myhre Syndrome
Respiratory insufficiency, Respiratory failure, Ataxia, Camptodactyly OMIM:139210
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Pulmonary hypoplasia, Omphalocele ORPHA:93271
Knobloch Syndrome
Pyloric stenosis, Lymphangioma ORPHA:1571
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Inability to walk, Falls, Respiratory insuffi... ORPHA:273
Tarp Syndrome
Extramedullary hematopoiesis, Glossoptosis, Cleft palate, Abnormal duodenum morphology, Tongue no... ORPHA:2886
Okamoto Syndrome
Omphalocele ORPHA:2729
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Liver Disease, Severe Congenital
Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea... OMIM:619991
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:340
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure OMIM:280000
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Atelis Syndrome 2
Pulmonic stenosis, Microphthalmia, Vitreous hemorrhage, Supravalvar pulmonary stenosis OMIM:620185
3Q29 Microdeletion Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:65286
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Stillbirth, Inability to walk, Inguinal hernia, Camptodactyly of... OMIM:601803
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Telangiectasia OMIM:601675
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema ORPHA:2526
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Micro Syndrome
Microphthalmia ORPHA:2510
Charge Syndrome
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Cleft palate, Dysphag... OMIM:214800
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus, Maternal ... ORPHA:1708
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Galloway-Mowat Syndrome 1
Microphthalmia, Oligohydramnios, Hypoplasia of the iris OMIM:251300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Cocaine Intoxication
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur... ORPHA:513456
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Plague
Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc... ORPHA:707
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Osteoporosis, ... ORPHA:77293
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353281
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Tuberous Sclerosis Complex
Respiratory failure, Pulmonary lymphangiomyomatosis, Shagreen patch, Respiratory tract infection ORPHA:805
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Respiratory failure, Pneumonia, Pneumothorax ORPHA:79404
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Spina bifida, Hydranencephaly ORPHA:2839
Townes-Brocks Syndrome 1
Anal stenosis, Rectovaginal fistula, Gastroesophageal reflux, Anal atresia, Tracheoesophageal fis... OMIM:107480
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Ogden Syndrome
Postnatal growth retardation, Generalized-onset seizure, Bilateral tonic-clonic seizure, Short st... OMIM:300855
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Oligohydramnios ORPHA:364577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Costello Syndrome
Respiratory insufficiency, Respiratory failure, Achilles tendon contracture, Pneumothorax OMIM:218040
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Allodynia ORPHA:252164
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Choreoacanthocytosis
Falls, Seizure, Bilateral tonic-clonic seizure, Head titubation, Decreased amplitude of sensory a... ORPHA:2388
Danon Disease
Hypokinesia OMIM:300257
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Respiratory failure ORPHA:2554
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormal thymus morphology, Abnormality of the... OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Respiratory failure, Abnormal dental enamel morphology ORPHA:2556
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Oligohy... ORPHA:564
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Wilson Disease
Decreased nerve conduction velocity, Hypokinesia, Chondrocalcinosis OMIM:277900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:457359
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Cohen Syndrome
Microphthalmia ORPHA:193
Coffin-Siris Syndrome 1
Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Gastric ulcer OMIM:135900
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Fraser Syndrome 2
Respiratory failure OMIM:617666
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage OMIM:308300
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Cousin Syndrome
Microphthalmia, Hydranencephaly OMIM:260660
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Rat-Bite Fever
Diminished movement ORPHA:31205
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Microphthalmia, Junctional ectopic tachycardia, Arrhythmia OMIM:309801
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi... OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Aortic regurgitation, Spina bifida ORPHA:508498
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Teebi-Shaltout Syndrome
Aortic valve stenosis, Microphthalmia OMIM:272950
Fanconi Anemia
Microphthalmia, Hypertrophic cardiomyopathy, Spina bifida, Umbilical hernia, Aplasia/Hypoplasia o... ORPHA:84
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Cockayne Syndrome Type 3
Microphthalmia, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Subdural hemorrhage ORPHA:90324
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, ... OMIM:100300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Unilateral lung agenesis ORPHA:500150
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomy... ORPHA:3472
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Gaucher Disease
Delayed puberty, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Short stature, At... ORPHA:355
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Hiatus hernia OMIM:601776
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Oculodentodigital Dysplasia
Microphthalmia, Arrhythmia OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Polyhydramnios, Branchial cyst, Pulmonary arterial hypertension OMIM:620186
Hallermann-Streiff Syndrome
Congestive heart failure, Microphthalmia ORPHA:2108
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Broad-based gait, Bilateral tonic-clonic seizure, Myoclo... OMIM:620330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Trichothiodystrophy
Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia ORPHA:33364
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Cockayne Syndrome B
Microphthalmia, Hypertension, Hypoplasia of the iris, Arrhythmia OMIM:133540
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Restrictive Dermopathy
Osteopenia, Submucous cleft hard palate, Decreased skull ossification, Microcolon ORPHA:1662
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Short stature, Myoclonus, Bilatera... ORPHA:438213
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Microphthalmia, Portal hypertension OMIM:620005
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Fontaine Progeroid Syndrome
Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Umbilical hernia, Oligo... OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Seizure, ... ORPHA:353277
Neurotrophic Keratopathy
Allodynia, Corneal scarring ORPHA:137596
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Umbilical hernia, Phthisi... OMIM:300166
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Telangiectasia OMIM:268400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure ORPHA:2751
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Enlarged kidney, Hepatomegaly, Meckel diverticulum, Exaggerated median tongue furr... OMIM:312870
Williams Syndrome
Osteopenia, Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Increased bon... ORPHA:904
Hartsfield Syndrome
Growth delay, Bilateral tonic-clonic seizure OMIM:615465
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Degcags Syndrome
Microphthalmia, Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Tachycardia OMIM:619488
Doors Syndrome
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Isolated Arrhinia
Microphthalmia ORPHA:1134
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Roberts Syndrome
Microphthalmia, Polyhydramnios ORPHA:3103
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Oligohydramnios OMIM:608670
Mend Syndrome
Aortic valve stenosis, Microphthalmia ORPHA:401973
Cockayne Syndrome
Microphthalmia, Hypertension, Retinal hemorrhage ORPHA:191
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Isolated Posterior Meningocele
Difficulty walking, Hypokinesia ORPHA:268810
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia OMIM:610829
Steinfeld Syndrome
Microphthalmia OMIM:184705
Traboulsi Syndrome
Microphthalmia OMIM:601552
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Monosomy 9P
Microphthalmia ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Witteveen-Kolk Syndrome
Microphthalmia, Polyhydramnios, Branchial fistula, Intracranial hemorrhage OMIM:613406
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Microphthalmia, Retinal hemorrhage, Hypoplasia of th... OMIM:175780
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Gastrointestinal hemorrhage, Spina bifida occulta, Optic nerve hypoplas... ORPHA:508488
Kabuki Syndrome 1
Postnatal growth retardation, Seizure, Bilateral tonic-clonic seizure with focal onset, Short sta... OMIM:147920
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Monosomy 13Q14
Microphthalmia ORPHA:1587
Pallister-Hall Syndrome
Microphthalmia, Oligohydramnios, Umbilical hernia ORPHA:672
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Branchiooculofacial Syndrome
Branchial anomaly, Microphthalmia, Anophthalmia OMIM:113620
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Roberts-Sc Phocomelia Syndrome
Frontal encephalocele, Microphthalmia, Polyhydramnios OMIM:268300
Mowat-Wilson Syndrome
Pulmonic stenosis, Microphthalmia 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
Hyphema, Aortic valve stenosis, Microphthalmia, Pulmonic stenosis ORPHA:261552
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonic stenosis, Microphthalmia, Aortic valve stenosis ORPHA:261537
Mowat-Wilson Syndrome
Pulmonic stenosis, Microphthalmia, Aortic valve stenosis ORPHA:2152
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia 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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