Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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 hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
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
Schizophrenia
EEG abnormality OMIM:181500
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Short stature, Focal impaired awareness seizure, EEG with centrot... OMIM:245570
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:725
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Falls, Chin myoclonus, Generalized... ORPHA:139426
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:615369
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... ORPHA:2382
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Short stature, Bilateral tonic-cloni... OMIM:619639
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Ab... OMIM:619565
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... ORPHA:98818
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Death in childhood, Arthrogryposis multiplex congenita, Akinesi... OMIM:619334
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Ataxia, EEG abnormality, G... OMIM:617836
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Se... OMIM:619157
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality OMIM:617643
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... ORPHA:98820
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Atte... OMIM:619191
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Myoclonus, Tremor, Ataxia, Anxiety, Depre... ORPHA:401901
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Huntington Disease-Like 2
Dystonia, Dementia, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depr... OMIM:606438
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:163721
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Jejunal Atresia
Jejunal atresia, Abnormal abdomen morphology OMIM:243600
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Respiratory insufficiency due to mu... OMIM:618184
Phosphoserine Phosphatase Deficiency
Seizure, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... ORPHA:3006
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Shuffling gait, Bradykinesia, Falls, Apathy, Short stepped shuf... ORPHA:412066
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory insuf... OMIM:208081
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired awareness seizure, Se... ORPHA:330050
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Hyperekplexia 4
Distal arthrogryposis, Umbilical hernia, Hypsarrhythmia, Flexion contracture, Camptodactyly, Resp... OMIM:618011
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... OMIM:619317
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure OMIM:608278
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Creutzfeldt-Jakob Disease
Dementia, Myoclonus, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:607876
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita, Respiratory insu... OMIM:611369
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Muscular Hypertonia, Lethal
Umbilical hernia, Pneumonia, Hypokinesia OMIM:254120
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... ORPHA:36387
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Abnormal peripheral action potential amplitude, Inability to walk, Respiratory failure, Dy... ORPHA:90117
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:139431
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Interlobular septal thickening, Diffuse reti... ORPHA:2302
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... ORPHA:1929
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Dystonia, Ataxia, Bilateral tonic-clonic seizure OMIM:618425
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Gait disturbance, Limb myoclonus, Bilateral t... ORPHA:352582
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Inability to walk, Atonic seizure, ... OMIM:617810
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Perry Syndrome
Respiratory arrest, Dystonia, Respiratory insufficiency, Bradykinesia, Central hypoventilation, S... OMIM:168605
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Dystonia, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass o... OMIM:610978
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Splenomegaly ORPHA:664
Miller-Dieker Syndrome
Ataxia, EEG abnormality, Omphalocele ORPHA:531
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Growth delay, Se... ORPHA:488635
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Death in infancy, Obstructive sleep apnea, Akinesia OMIM:618822
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Myopathy, Congenital, Compton-North
Death in infancy, Respiratory insufficiency due to muscle weakness, Joint contracture of the hand... OMIM:612540
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Loss of ability to walk, Freezing of gait, Short stepped shuffling gait, A... ORPHA:240094
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Mucus Inspissation Of Respiratory Tract
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis OMIM:253240
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Tremor, Ataxia, Irritability, Ment... OMIM:618093
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Malabso... OMIM:615710
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Short stature, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:619065
Rare Non-Syndromic Intellectual Disability
Seizure, Dystonia, Difficulty walking, Bilateral tonic-clonic seizure ORPHA:101685
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure OMIM:104290
Omphalocele
Omphalocele ORPHA:660
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Omphalocele, Autosomal
Omphalocele, Inguinal hernia OMIM:164750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clo... OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased connective tissue, Respiratory insufficiency, Hypokinesia ORPHA:238329
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, Typical absence seizure, Bilateral tonic-cloni... ORPHA:168491
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy OMIM:258320
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Convulsive status epilepticus, Inability to walk, EEG abnormality, Focal-onset seizure OMIM:618760
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Atypical Juvenile Parkinsonism
Dystonia, Shuffling gait, Bradykinesia, Inability to walk, Short stepped shuffling gait, Akinesia... ORPHA:391411
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impaired tandem gait, Seizure OMIM:300423
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... ORPHA:65683
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... ORPHA:79137
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis OMIM:616726
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Focal emotional... ORPHA:178469
Bilateral Generalized Polymicrogyria
Dystonia, Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short statur... ORPHA:208447
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Combined Oxidative Phosphorylation Deficiency 6
Increased connective tissue, Respiratory insufficiency due to muscle weakness, Hypokinesia OMIM:300816
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Status epilepticus, Ataxia, EEG abnormali... OMIM:271980
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Arthrogryposis multiplex congenita, Hypokinesia, Camptodactyly of fing... ORPHA:994
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Spinocerebellar Ataxia Type 27
Gait disturbance, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Difficulty walking ORPHA:98764
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Duodenal atresia, Intestinal malrotation OMIM:619608
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Respiratory insufficiency due to muscle weakness, Neonatal death, Arthrogryposis multip... OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Nonproductive... ORPHA:2902
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Seizure, Generalized myoclonic seizure, ... ORPHA:464282
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Emotional lability, An... ORPHA:71517
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Flexion contracture OMIM:616081
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodactyly of finger, Re... OMIM:614399
Foxg1 Syndrome
Dystonia, Severe postnatal growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, ... ORPHA:561854
Postencephalitic Parkinsonism
Abnormal respiratory system physiology, Diminished movement, Bradykinesia, Cough, Akinesia, Oculo... ORPHA:97349
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diabetes mellitus, Autoimmune hemoly... OMIM:614162
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture OMIM:613869
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... OMIM:618917
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Corticobasal Syndrome
Dystonia, Gait disturbance, Bradykinesia, Akinesia, Limb dystonia ORPHA:454887
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis OMIM:300455
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelec... OMIM:268500
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Pontocerebellar Hypoplasia, Type 14
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure OMIM:619301
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... ORPHA:289266
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, H... ORPHA:382
Omphalocele, X-Linked
Omphalocele OMIM:310980
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Hyperinsulinemic hypoglycemia,... OMIM:602579
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency, Lethargy OMIM:605711
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Flexion contracture OMIM:615348
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Torticollis, Bradykinesia, Hypokinesia, Ataxia, Akinesia OMIM:606693
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Tonic seizure, EEG with occipital epileptiform discharges, Bilateral tonic-clonic s... OMIM:619428
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Seizure, Res... ORPHA:3077
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Seizure, Status epilepticus, EEG abnormality, Gait ata... ORPHA:529665
Hyperekplexia 1
Umbilical hernia, Apnea, Exaggerated startle response, Hypokinesia, Aspiration, Inguinal hernia OMIM:149400
Arthrogryposis Multiplex Congenita 5
Dystonia, Neonatal respiratory distress, Death in infancy, Arthrogryposis multiplex congenita, In... OMIM:618947
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... OMIM:615237
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Myoclonus, Focal impaired ... ORPHA:485350
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis, EEG a... ORPHA:313772
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 myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Anemia, Duodenal atresia ORPHA:3405
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Pontocerebellar Hypoplasia, Type 15
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure OMIM:619302
Severe Canavan Disease
Seizure, Inability to walk, Bilateral tonic-clonic seizure, Lethargy ORPHA:314911
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... ORPHA:2590
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Dysdiadoc... OMIM:614487
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Ataxia, Respiratory failure OMIM:610127
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific int... OMIM:610921
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Spinocerebellar Ataxia 21
Dystonia, Progressive cerebellar ataxia, Ataxia, Akinesia, Limb ataxia, Gait ataxia OMIM:607454
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... OMIM:602347
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Diarrhea 9
Villous atrophy OMIM:618168
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Gait ataxia, Akinesia ORPHA:98773
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-ons... OMIM:619616
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Seizure, Mental deterioration, Motor deteriorati... ORPHA:168782
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal... ORPHA:488613
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Ataxia, Respiratory failure, Lethargy OMIM:614299
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Central sleep apnea, Multifocal epileptiform discharges, Ataxia, Inabili... ORPHA:70472
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Gait ataxia, Hypokinesia OMIM:605407
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Seizure, Inability to walk, Generalized dystonia, Tip-toe gait, Attention defic... ORPHA:216866
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, ... ORPHA:98795
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Lissencephaly Type Iii And Bone Dysplasia
Arthrogryposis multiplex congenita, Akinesia OMIM:601160
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Akinesia, Blepharospasm ORPHA:240071
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Hypokinesia OMIM:609161
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Loss of ability to walk, Exertional dyspnea, Decreased cervical spin... ORPHA:254361
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex c... OMIM:618291
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Bradykinesia, Seizure, EEG abnormality, Gait ataxia, Abnormal posturing ORPHA:157941
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:1947
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with burst suppression, Status epilepticus, G... OMIM:612164
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Short stature, Hypsarrhythmia, EEG with general... ORPHA:91131
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Gaucher Disease, Perinatal Lethal
Neonatal death, Apnea, Arthrogryposis multiplex congenita, Hypokinesia, Respiratory distress, Aki... OMIM:608013
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Hypokinesia, Flexion contracture, Respiratory failure, Diffic... ORPHA:171433
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption ORPHA:79168
Spinocerebellar Ataxia Type 1
Gait disturbance, Dystonia, Gait imbalance, Abnormality of somatosensory evoked potentials, Dysme... ORPHA:98755
Duodenal Atresia
Duodenal atresia OMIM:223400
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Hypokinesia, Respiratory distress, Congenital co... OMIM:615042
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Dystonia, Apnea, Death in infancy OMIM:617248
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Manganese Poisoning
Dystonia, Gait disturbance, Bradykinesia, Akinesia ORPHA:306682
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, E... ORPHA:309246
Alpers-Huttenlocher Syndrome
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Broad-based gait OMIM:614450
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonu... ORPHA:501
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Brain Small Vessel Disease 2
Growth delay, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, EEG with burst suppression, Respirator... ORPHA:168486
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Dysmetria, Inability to walk, Atonic seizure, U... ORPHA:93952
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Flexion contracture, Akinesia OMIM:225790
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Abnormality of connective tissue, Loss of... ORPHA:370968
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Aplastic anemia, Panc... OMIM:300635
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Difficulty walking, Truncal ataxia, Bilateral tonic-clonic seizure ORPHA:369840
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... OMIM:301058
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Diminished movement, Focal dystonia, Bradykinesia ORPHA:240103
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Focal dystonia, Hypokinesia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyri... ORPHA:101150
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Interlobular septal thickening, Neona... OMIM:265120
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Infantile spasms, Hyps... ORPHA:79243
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Hip contracture, Knee flexion contracture, Respiratory insufficiency OMIM:313420
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Wolman Disease
Hepatomegaly, Esophageal varix, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea ORPHA:75233
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... ORPHA:95427
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Intellectual Developmental Disorder, X-Linked 30
Short stature, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Generalized non-motor (abs... OMIM:300558
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dystonia, Bradykinesia, Seizure, Atypical absence status epilepticus, Focal-ons... ORPHA:225147
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... OMIM:610913
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Paroxysmal dystonia, Bilateral tonic-clonic seizure, N... ORPHA:98784
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Ataxia, Dysdiadochokinesis, Abnormal vestibulo-ocular reflex, Akinesia, Gait ataxia ORPHA:247234
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... ORPHA:724
Trigonocephaly 1
Omphalocele OMIM:190440
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly OMIM:121300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, EEG with continuous slow activity, Bilateral tonic-clonic seizure ORPHA:275864
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Spinocerebellar Ataxia Type 12
Gait disturbance, Bradykinesia, Limb dysmetria, Hypokinesia, Ataxia, Unsteady gait ORPHA:98762
Aceruloplasminemia
Dystonia, Torticollis, Ataxia, Craniofacial dystonia, Akinesia, Limb ataxia, Gait ataxia, Blephar... ORPHA:48818
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Familial Melanoma
Abnormality of the lymphatic system, Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Intrahe... OMIM:607765
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Acalvaria
Omphalocele ORPHA:945
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Ascites, Anemia, Malabsorption, Steatorrhea, Abnormality of the gastroin... ORPHA:2070
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Respiratory insufficiency, Hypokinesia OMIM:614707
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... ORPHA:363400
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Akinesia OMIM:253290
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Omphalocele, Respiratory distress OMIM:617895
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Lymphopenia, Ileal ulcer, Thrombocytopenia, Hemolytic anemia OMIM:616744
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules OMIM:619445
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Porta... ORPHA:79319
Developmental And Epileptic Encephalopathy 28
Hypokinesia OMIM:616211
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... ORPHA:2930
Myoclonic-Astatic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, EEG with ge... ORPHA:1942
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... OMIM:245400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Pulmonary arterial hypertension, Abnormal posturing, Inguinal hernia, Lethargy OMIM:614857
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Intrahepatic chole... OMIM:613812
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Death in childhood, Akinesia OMIM:619147
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Distal Trisomy 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Dystonia, Torticollis, Laryngeal dystonia, Progressive cerebellar ataxia, Akinesia ORPHA:99
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Lethargy OMIM:619386
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Hypokinesia, Flexion contracture, Respiratory failure, Respiratory... OMIM:310400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... OMIM:612714
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Jaundice ORPHA:79302
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology ORPHA:281090
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... OMIM:612526
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele ORPHA:93267
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Hypokinesia, Inability to walk, Generalized dystonia, O... ORPHA:255
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Impaired tandem gait, Ataxia, Bilateral tonic-clonic seizure with generaliz... OMIM:619028
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Normocytic anemia, Villous atrophy, Iron deficiency anemia, Malabso... ORPHA:398063
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Prolonged neonatal jaundice, Intrahepatic cholestasis, Fat ma... OMIM:214950
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... ORPHA:1198
Bronchogenic Cyst
Pneumonia, Cough, Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis ORPHA:2357
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure OMIM:618233
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice OMIM:235555
Developmental And Epileptic Encephalopathy 89
Dystonia, Omphalocele, Neonatal death, Hypsarrhythmia, EEG with burst suppression, Flexion contra... OMIM:619124
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Hypokine... ORPHA:258
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... OMIM:616050
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Camptodactyly OMIM:618529
Leigh Syndrome
Dystonia, Respiratory insufficiency, Abnormal pattern of respiration, Ataxia, Respiratory failure OMIM:256000
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal... OMIM:610539
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Bilateral tonic-clonic seizure, Seizure, Loss of ability to walk, Interictal EE... ORPHA:79264
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Decreased nerve conduction velocity, Ventilator dependence with inability to wean, Cam... OMIM:604320
German Syndrome
Arthrogryposis multiplex congenita, Hypokinesia OMIM:231080
Anemia, Congenital Dyserythropoietic, Type Iv