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Gene: Slc32a1 MGI:1194488

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 32 (GABA vesicular transporter), member 1
Synonyms:
Viaat,  R75019,  VGAT

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc32a1 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 Slc32a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934

The table below shows human diseases predicted to be associated to Slc32a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure OMIM:620398
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Ca... OMIM:618011
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pierre Robin Syndrome
Neonatal respiratory distress, Pierre-Robin sequence, Upper airway obstruction, Cleft palate, Glo... OMIM:261800
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... OMIM:253300
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... OMIM:616081
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,... OMIM:617174
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:90117
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... OMIM:618328
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... OMIM:300717
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum ORPHA:1906
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Respirat... OMIM:614399
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Accessory oral frenulum ORPHA:1373
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Miller-Dieker Syndrome
Omphalocele, Abnormal upper lip morphology, EEG abnormality ORPHA:531
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Omphalocele
Omphalocele ORPHA:660
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Acalvaria
Omphalocele, Abnormal lung lobation, Cleft palate ORPHA:945
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... OMIM:617106
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia, Hypotonia OMIM:275100
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger, Hypotonia, Downturned corners of mouth, Hypertonia, High pa... ORPHA:1707
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate OMIM:273390
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding OMIM:606893
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure ORPHA:140927
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Neonatal respiratory distress, Inguinal hernia, Recurrent upper... OMIM:300209
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... OMIM:201550
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, High palate, Neonatal deat... OMIM:611890
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Achondrogenesis, Type Ib
Umbilical hernia, Inguinal hernia, Stillbirth, Respiratory insufficiency OMIM:600972
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... ORPHA:263516
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Yoon-Bellen Neurodevelopmental Syndrome
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... OMIM:619701
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia OMIM:613630
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Respiratory failure OMIM:613435
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... OMIM:614608
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Congenital Myopathy 21 With Early Respiratory Failure
Inguinal hernia, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Tongue fasciculations OMIM:600561
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral... ORPHA:63862
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Gingival ... OMIM:618186
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, High, na... ORPHA:2872
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... OMIM:615834
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p... OMIM:613544
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Trigonocephaly 1
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum OMIM:190440
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... OMIM:600325
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology ORPHA:1516
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Fatigable weakness of skeletal muscles, Abnormality of the tongue mu... ORPHA:370968
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Intermediate Nemaline Myopathy
High, narrow palate, Flexion contracture, Respiratory failure, Long philtrum, Arthrogryposis mult... ORPHA:171433
Thyroid Hemiagenesis
Macroglossia, Umbilical hernia ORPHA:95719
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure OMIM:604801
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip OMIM:601357
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... ORPHA:98913
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo... ORPHA:137834
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack... ORPHA:99931
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia ORPHA:2349
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Uvula, Bifid
Bifid uvula OMIM:192100
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Adams-Oliver Syndrome 4
Umbilical hernia OMIM:615297
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Omphalocele, Respiratory failure, Pulmonary hypoplasia, Long philtrum OMIM:617895
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... ORPHA:915
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Inguinal hernia, Pursed lips, Neonatal respiratory distress, Elbow flexion contr... OMIM:616266
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death OMIM:300219
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia OMIM:274400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Catifa Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Asthma, Cleft palate, Increased overbite, ... OMIM:618761
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Developmental And Epileptic Encephalopathy 89
Omphalocele, Thin upper lip vermilion, EEG with burst suppression, Flexion contracture, Cleft pal... OMIM:619124
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... OMIM:612938
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Oral ulcer OMIM:620321
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... OMIM:620233
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Omphalocele, Short philtrum ORPHA:93267
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, High, narrow palate ORPHA:2181
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Sialidosis Type 2
Dyspnea, Umbilical hernia, Inguinal hernia, Flexion contracture ORPHA:87876
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Recurrent respiratory infections, Thin upper lip vermilion, Exaggerated cupid's bow,... OMIM:618316
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly OMIM:618786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Respiratory failure, Ab... ORPHA:75840
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... OMIM:618529
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... ORPHA:2590
Achondrogenesis
Umbilical hernia, Inguinal hernia, Long philtrum ORPHA:932
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Cleft Soft Palate
Cleft soft palate OMIM:119570
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Flexion contracture, Macr... ORPHA:254528
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, High palate, Respiratory insufficiency OMIM:615330
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency, Anal atresia OMIM:276950
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Pulmon... OMIM:263210
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Transient Neonatal Diabetes Mellitus
Macroglossia, Umbilical hernia ORPHA:99886
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Ar... OMIM:616867
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, High palate ORPHA:1035
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Death in infancy, Jejunal ... OMIM:243150
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... ORPHA:454836
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Torsion dystonia,... OMIM:128100
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Achondrogenesis Type 1B
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93298
Birk-Barel Syndrome
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, Short philtrum, Sub... OMIM:612292
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal... ORPHA:2311
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um... ORPHA:2963
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru... OMIM:616579
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... ORPHA:268947
Rin2 Syndrome
Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um... ORPHA:217335
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... OMIM:620249
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng... ORPHA:2254
Chromosome 9P Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Inguinal hernia, High, narrow palate, Deep philtrum, Hypot... OMIM:158170
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Apnea, Aspiration OMIM:149400
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Hypotonia, Downturned corners of mouth, Wide mouth, High p... OMIM:618779
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Respiratory insufficiency... OMIM:616300
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93299
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Opitz Gbbb Syndrome
Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... OMIM:300000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Umbilical hernia, Hypotonia ORPHA:254534
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate, Pulm... OMIM:313850
Triploidy
Omphalocele, Intestinal malrotation, Non-midline cleft lip, Cleft palate, Wide mouth, Macroglossi... ORPHA:3376
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Dyspnea, Xerostomia, Abnormal respiratory system physiology... ORPHA:803
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... OMIM:616977
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... OMIM:612164
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia ORPHA:2196
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insufficiency, Anteriorly p... ORPHA:1488
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic... OMIM:130080
Short-Rib Thoracic Dysplasia 12
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... OMIM:269860
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... ORPHA:1194
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Pulmonary hypoplasia, Long ph... OMIM:608149
Fryns Syndrome
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... ORPHA:2059
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Tented upper lip vermilion, Camptodactyly of finger ORPHA:896
Sandestig-Stefanova Syndrome
Orofacial cleft, EEG abnormality, Respiratory failure, High palate, Camptodactyly OMIM:618804
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus ORPHA:561854
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia OMIM:618205
Constricting Bands, Congenital
Omphalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Gastroschisis, Bladder exstrophy OMIM:217100
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m... ORPHA:2496
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Ins... OMIM:604320
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Multifocal epileptiform discharges, EEG with abnormally slow frequencies ORPHA:70472
Pelger-Huet Anomaly
Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth OMIM:169400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal... ORPHA:369891
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Aspiration, High palate, T... OMIM:618651
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate ORPHA:1770
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Ab... ORPHA:2707
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure OMIM:617493
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure OMIM:617166
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent pneumonia, Umbilical hernia OMIM:619769
Luo-Schoch-Yamamoto Syndrome
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... OMIM:619460
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:95717
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Reduced intraabdominal adipose tissue, ... ORPHA:363400
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon... OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Achilles tendon contracture, Macroglossia, Respiratory failure, Restrictive ve... OMIM:606612
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly, Anal atresia OMIM:601389
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia, High palate, Short philtrum OMIM:618354
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Thin vermilion border, Long philtrum ORPHA:171839
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... OMIM:616638
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, High palate, Congenital diaphragmatic hernia ORPHA:284180
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Omphalocele, Respiratory insufficien... ORPHA:2484
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum OMIM:312170
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Dystonia OMIM:304700
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Inguinal hernia, Hypoventilation, Elbow contracture, Umbilical hernia OMIM:620275
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ... OMIM:255800
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Meckel Syndrome, Type 2
Omphalocele, Intestinal malrotation, Cleft palate OMIM:603194
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Increased connective tissue, Atelectasis, Flexion contracture... ORPHA:258
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Omphalocele, Barrett esophagus, Intestina... ORPHA:1199
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Cleft palate, Tracheomalacia, Umbilical h... OMIM:156550
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb... ORPHA:329224
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2021
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Pulmonary hypoplasia, Long p... OMIM:145420
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis OMIM:601492
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Inguinal hernia, Intestinal pseudo-obstruction, Asthma, Flexion contra... OMIM:309900
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Gingival overgrowth, Apl... ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 48
Tracheobronchomalacia, Umbilical hernia, Open mouth, Recurrent pneumonia OMIM:617751
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Progressive sp... OMIM:247200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Caudal Duplication
Omphalocele, Intestinal duplication ORPHA:1756
Pentalogy Of Cantrell
Omphalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, Orofacial clef... ORPHA:1335
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tented upper lip vermilion, Respiratory failure, Flexion contracture, Narrow palate OMIM:616505
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Respiratory distress ORPHA:226313
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Hypotonia, High palate, Generalized hypotonia, Long philtr... OMIM:609625
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
C Syndrome
Omphalocele, Accessory oral frenulum, Hypotonia, Wide mouth, High palate, Generalized hypotonia, ... OMIM:211750
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Gingival overgrowth, Gingi... OMIM:225410
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas OMIM:155145
Roifman-Chitayat Syndrome
Umbilical hernia, Thin lower lip vermilion, Pneumonia OMIM:613328
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand OMIM:175700
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Opitz Gbbb Syndrome
Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft lip, Tracheoeso... ORPHA:2745
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick lower lip vermilion,... ORPHA:1692
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft palate, Narrow mouth... ORPHA:261344
Lethal Congenital Contracture Syndrome 10
Omphalocele, Narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Long philtrum OMIM:617022
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia OMIM:618272
Cantu Syndrome
Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ... OMIM:239850
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Axial hypotonia, Dental crowding, Facial hypotonia, Protruding tongue, Submucous... OMIM:618106
Hereditary Hyperekplexia
Umbilical hernia, Esophagitis, Hernia, Hiatus hernia ORPHA:3197
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, High palate, Chylothorax, Death in c... OMIM:620278
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Intellectual Disability, Buenos-Aires Type
Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia ORPHA:3079
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Tracheobronchomalacia, Umbilical hernia, Open mouth, Recurrent pneumonia ORPHA:500159
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Hurler-Scheie Syndrome
Inguinal hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the ... OMIM:607015
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil... OMIM:615879
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... OMIM:614922
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth, Cleft palate OMIM:269250
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong... ORPHA:2092
Lymphatic Malformation 12
Neonatal respiratory distress, Inguinal hernia, Pleural thickening, Death in adolescence, Neonata... OMIM:620014
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Dental crowding, Abnormal large intestine morp... ORPHA:93932
Fibrochondrogenesis 1
Omphalocele, Narrow mouth, Cleft palate, Stillbirth, Long philtrum, Joint contracture of the hand... OMIM:228520
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Abnormality of the tongue, Aspiration pneumonia, Cough ORPHA:216866
Congenital Multicore Myopathy With External Ophthalmoplegia
Tented upper lip vermilion, Pneumonia, Increased connective tissue, Flexion contracture, Abnormal... ORPHA:98905
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Tracheomal... ORPHA:261652
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... ORPHA:168491
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum ORPHA:2505
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... ORPHA:85321
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma... OMIM:616894
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Tracheoesophageal fistula, C... ORPHA:887
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Intestinal malrotation, Pulmonary hypoplasia ORPHA:3035
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip... OMIM:300373
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Macs Syndrome
Irregular dentition, Gingival overgrowth, Bronchiectasis, High palate, Thick vermilion border, Re... OMIM:613075
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Abnormality of somatosensory evoked pote... ORPHA:98755
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit... OMIM:618000
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft li... OMIM:618454
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Narrow... ORPHA:1555
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... OMIM:310200
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Neonatal respiratory distress, Camptodactyly of finger, Aplasia/Hypoplasia of th... ORPHA:2990
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:464282
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Respiratory insufficiency, Death in childhood, Neonatal death, Umbilical hernia,... OMIM:614052
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... ORPHA:70
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Interictal epileptiform activity OMIM:620166
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Recurrent sinusitis, Umbilical ... OMIM:130000
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Umbilica... OMIM:612582
Otopalatodigital Syndrome, Type I
Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth OMIM:311300
Chromosome 17Q12 Duplication Syndrome
Axial hypotonia, Facial hypotonia, Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Velocardiofacial Syndrome
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... OMIM:192430
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Esophageal atresia, Pulmon... OMIM:265380
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Inguinal hernia, Tachypnea, Abnormal posturing OMIM:614857
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Chromosome 18Q Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Cleft upper lip, Asthma, Cleft palate, Downturned corn... OMIM:601808
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Fle... OMIM:618291
Carpenter Syndrome 1
Omphalocele, Persistence of primary teeth, Agenesis of permanent teeth, High palate, Camptodactyl... OMIM:201000
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Pseudotrisomy 13 Syndrome
Omphalocele, Cleft upper lip, Hypotonia, Generalized hypotonia, Anal atresia, Median cleft lip an... OMIM:264480
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Omphalocele, Apnea, Pyloric stenosis, Recurrent upper respiratory ... OMIM:602535
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Downturned ... ORPHA:261318
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Esophageal atresia, Non-mi... ORPHA:3380
Pseudo-Torch Syndrome 1
Umbilical hernia, Cleft lip, High palate, Long philtrum OMIM:251290
Distal Deletion 19P
Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids ORPHA:96129
Familial Visceral Myopathy
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion OMIM:601927
Cln3 Disease
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure ORPHA:228346
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Lateral Meningocele Syndrome
Inguinal hernia, Dental crowding, Meningocele, Cleft palate, Umbilical hernia, High palate, Long ... OMIM:130720
Fryns Syndrome
Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upp... OMIM:229850
Scarf Syndrome
Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcifi... ORPHA:3134
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Neonatal respiratory distress, Congenital diaphragm... OMIM:265000
Distal Deletion 3P
Inguinal hernia, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, L... ORPHA:1620
Icf Syndrome
Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue ORPHA:2268
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Abnormal dental enam... ORPHA:534
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni... ORPHA:42
Lateral Meningocele Syndrome
Inguinal hernia, Dental crowding, High, narrow palate, Meningocele, High palate, Umbilical hernia... ORPHA:2789
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Dental crowding, Anal stenosis, Intestinal malrotat... OMIM:305450
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Inguinal hernia, Narrow mouth OMIM:219150
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Alg1-Cdg
Respiratory failure, Protein-losing enteropathy ORPHA:79327
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, High palate OMIM:614520
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia, Esophageal varix, Pulmonary arterial hypertension OMIM:616028
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Intestinal malrotation, Hypotonia, Cleft palate, Orofacial cleft, Narrow mouth, Umbi... ORPHA:2166
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Narrow mouth, Rectal prolapse, Spina bifida occulta, Gingival overgrow... OMIM:235510
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Amme Complex
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti OMIM:300194
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodon... ORPHA:90652
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia ORPHA:95716
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Respiratory failure requiring assisted ventilation, Di... ORPHA:254519
Dent Disease 2
Umbilical hernia OMIM:300555
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia, Smooth philtrum ORPHA:1778
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture ORPHA:166016
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Intestinal malrotation, Umbilical hernia, Microcolon ORPHA:2241
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Native American Myopathy
Cleft palate, Respiratory insufficiency, Downturned corners of mouth, Congenital contracture, Hig... ORPHA:168572
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Widely spaced teeth, Respiratory insufficiency OMIM:135100
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Sandifer Syndrome
Abnormal posturing, Torticollis, Esophagitis, Hiatus hernia ORPHA:71272
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Snakebite Envenomation
Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding ORPHA:449285
Arthrogryposis Multiplex Congenita 5
Death in infancy, Inguinal hernia, Neonatal respiratory distress, Flexion contracture, Elbow flex... OMIM:618947
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Cleft soft pala... OMIM:615582
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee flexion contracture, Dis... OMIM:114300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Long uvula, Tooth malposition, Narrow pal... ORPHA:536532
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Elbow flexion contracture, Narrow palate,... OMIM:608836
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, High palate... OMIM:208050
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida ORPHA:99742
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:222448
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Wide mouth, Umbilical hernia, Median pseudocleft lip OMIM:619758
Autosomal Recessive Robinow Syndrome
Death in infancy, Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Camptodac... ORPHA:1507
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis, Downturned corners of mouth, Thin vermilion bo... ORPHA:1001
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... ORPHA:3015
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Tracheomalacia, Cario... ORPHA:536467
Immunodeficiency 49
Umbilical hernia, Short philtrum, Natal tooth OMIM:617237
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
C Syndrome
Omphalocele, Death in infancy, Accessory oral frenulum, Congenital diaphragmatic hernia, Aplasia/... ORPHA:1308
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Umbilical hernia, Inguinal hernia, Long philtrum ORPHA:1292
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... ORPHA:2257
Osteogenesis Imperfecta, Type Xiii
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum OMIM:614856
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Umbilical hernia, Inguinal hernia ORPHA:3218
Holoprosencephaly
Omphalocele, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Congenital diaph... ORPHA:2162
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Respiratory failure, Cleft palate ORPHA:158687
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Abnormality of the dentition OMIM:617952
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Dental crowding, Hypercapnia, Ankle flexion co... ORPHA:2020
3Mc Syndrome 1
Omphalocele, Dental crowding, Diastasis recti, Cleft upper lip, Cleft lip, Abnormality of the abd... OMIM:257920
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Omphalocele, Cleft palate, Stillbirt... OMIM:309350
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Pursed lips, Apnea, Shoulder flexion contracture, Death in infa... ORPHA:800
Congenital Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93400
Chand Syndrome
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... ORPHA:1401
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Inguinal hernia, Joint contracture of the 4th finger, Joint contracture of the ... OMIM:618914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Oligodontia, Abnormality of the dentition ORPHA:2095
Severe Congenital Nemaline Myopathy
Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... ORPHA:171430
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia ORPHA:95715
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilate... OMIM:610828
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Inguinal hernia OMIM:252900
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Thin upper lip vermilion, Neonatal respiratory distress, Downturned corners of mouth... ORPHA:3164
Huntington Disease-Like 1
Abnormal posturing, Generalized hypotonia ORPHA:157941
De Barsy Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Small, conical teeth, High palate, Nar... ORPHA:2962
Branchioskeletogenital Syndrome
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... ORPHA:1299
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Widened atrophic scar, High, narrow palate, Recurrent pneumonia, Elbow flexion c... ORPHA:1900
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Sporadic Infantile Bilateral Striatal Necrosis
Infantile axial hypotonia, Titubation, Dystonia, Progressive extrapyramidal muscular rigidity, Ab... ORPHA:225147
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... ORPHA:373
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Hydrolethalus
Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilateral cleft lip, Bif... ORPHA:2189
Alg9-Cdg
Omphalocele, Thin upper lip vermilion, Villous atrophy, Lipodystrophy, Asthma, Abnormal lung loba... ORPHA:79328
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Congenital diaphragmatic hernia ORPHA:250999
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Emphysema, Congenital diaphragmatic hernia OMIM:219100
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Exaggerated cupid's bow, Wide mouth, Macroglossia, High palate, Umbilical hernia OMIM:614501
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Deep philtrum, Widely-spaced maxillary central incisors ORPHA:404443
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Bilateral camptodactyly, Smooth philtrum, Oligodontia OMIM:619234
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Elbow flexion contracture, Knee flexion contracture, High pala... OMIM:613776
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus OMIM:220120
Gapo Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Long philtrum, Umbilical hernia, Abnormal... ORPHA:2067
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapul... OMIM:200995
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Flexion contracture, Submucous cleft hard palate, Hypotonia, High palate, Genera... OMIM:222765
Carpenter Syndrome
Umbilical hernia ORPHA:65759
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... OMIM:619314
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Developmental And Epileptic Encephalopathy 95
Inguinal hernia, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Macroglossia, W... OMIM:618143
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:79243
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Gingival overgrowth, Macroglossia, High palate, Umbilical hernia, ... ORPHA:96191
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Pyloric stenosis, Pulmonary... ORPHA:3342
Zygomycosis
Fasciitis, Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, Pulmonary i... ORPHA:73263
Hurler Syndrome
Inguinal hernia, Flexion contracture, Gingival overgrowth, Macroglossia, Thick vermilion border, ... OMIM:607014
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... OMIM:610042
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... OMIM:115470
Scarf Syndrome
Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia OMIM:312830
Oculodentodigital Dysplasia
Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of p... ORPHA:2710
9P13 Microdeletion Syndrome
Umbilical hernia, High palate ORPHA:324313
Mucopolysaccharidosis, Type Vii
Diastasis recti, Flexion contracture, Gingival overgrowth, Macroglossia, Widely spaced teeth, Umb... OMIM:253220
3Mc Syndrome
Diastasis recti, Orofacial cleft, Downturned corners of mouth, Umbilical hernia, Spina bifida occ... ORPHA:293843
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Hypotonia, Rectovaginal fistula, Generalized hypotonia, E... OMIM:600373
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood OMIM:617186
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:544503
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Scarring, Protruding tongue, Deep philtrum, Recurrent pneumonia, Gingival o... ORPHA:99843
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Omphalocele, Diastasis recti, Pyloric stenosis, Thin vermilion border, Hypodonti... OMIM:618419
Cerebrocostomandibular Syndrome
Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Carious teeth, Cleft lip, Pierre... OMIM:117650
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Anal atresia ORPHA:63260
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, High, narrow palate, Dyspnea, Submucous cleft hard... ORPHA:2554
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Dental malocclusion, Narrow palate, High palate, Minimal subcutaneous fat, Campt... OMIM:182212
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... OMIM:617301
Tolchin-Le Caignec Syndrome
Diastasis recti, Submucous cleft hard palate, High palate, Narrow mouth, Umbilical hernia OMIM:618971
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... ORPHA:2751
Shprintzen Omphalocele Syndrome
Omphalocele, Hypotonia, Thin vermilion border, Generalized hypotonia, Anal atresia OMIM:182210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... ORPHA:2912
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion, Cellu... OMIM:306400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Tented upper lip vermilion, Miscarriage, Interphalangeal joint contracture of finger... ORPHA:96334
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Thick lower lip vermilion, Cleft palate, W... OMIM:280000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Hip contracture, Pierre-Robin sequence, Flexion contracture, Gingival overgrowt... OMIM:300868
Bartsocas-Papas Syndrome 1
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Flexion contracture, Cleft palate, ... OMIM:263650
Catel-Manzke Syndrome
Inguinal hernia, Cleft upper lip, Narrow mouth, Pierre-Robin sequence, Cleft palate, Glossoptosis... OMIM:616145
Meier-Gorlin Syndrome 6
Emphysema, Cleft palate, Thick vermilion border, Umbilical hernia, Tracheobronchomalacia OMIM:616835
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Orofacial cleft, Gastroschisis, Narrow mouth, Arthr... ORPHA:63259
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... ORPHA:480864
Autosomal Dominant Robinow Syndrome
Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Open bite,... ORPHA:3107
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Cantú Syndrome
Wide mouth, Umbilical hernia, Thick vermilion border, Long philtrum ORPHA:1517
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Fatigable... ORPHA:26791
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, High palate OMIM:104350
Shprintzen-Goldberg Syndrome
Inguinal hernia, Apnea, Camptodactyly of finger, High, narrow palate, Aplasia/Hypoplasia of the a... ORPHA:2462
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Inguinal hernia, Pneumonia, Carious teeth, Flexion contracture, Cervic... OMIM:253200
Genetic Transient Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:226316
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Long philtrum, Umbilical hernia ORPHA:1101
Meckel Syndrome, Type 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Axial hypotonia, Intestinal malrotation, Camp... OMIM:249000
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... OMIM:619580
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Fraser Syndrome
Omphalocele, Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Abnormal lung lob... ORPHA:2052
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Respiratory failure ORPHA:3240
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Atrophic scars, Umbilical hernia OMIM:614557
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:616672
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... ORPHA:464
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Respiratory failure, Decrea... ORPHA:206436
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Downturned corners of mout... OMIM:135500
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... OMIM:180700
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Death in infancy, Protruding tongu... OMIM:612289
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Respiratory failure requiring assisted ventilation, Diastasis r... ORPHA:576
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn... ORPHA:79138
Mucolipidosis Ii Alpha/Beta
Inguinal hernia, Diastasis recti, Myelopathy, Recurrent pneumonia, Gingival overgrowth, Wide mout... OMIM:252500
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Scarring, Diastasis recti, Hiatus hernia, Intestinal malrotation, Narro... OMIM:601776
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Umb... ORPHA:77301
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ... OMIM:268310
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Wid... ORPHA:496641
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Intestinal duplication, Bladder exstrophy, Cloacal exstrophy... ORPHA:93929
Geleophysic Dysplasia 3
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum OMIM:617809
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Pulm... ORPHA:991
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... OMIM:612863
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Abnormality of the dentition, Cleft upper lip, Cleft palate, Umb... OMIM:304110
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617281
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Martin-Probst Syndrome
Wide mouth, Umbilical hernia, Thick lower lip vermilion, Dental malocclusion OMIM:300519
Trichothiodystrophy
Multiple joint contractures, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Bro... ORPHA:33364
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cleft lip, Cleft palate, Thick vermilion border, Everted lower lip vermilion, Umbilical hernia, O... OMIM:301066
22Q11.2 Deletion Syndrome
Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Intestinal malrotation... ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia OMIM:617062
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Hajdu-Cheney Syndrome
Inguinal hernia, Intestinal malrotation, Abnormality of the dentition, Open bite, Cleft palate, D... ORPHA:955
Weaver Syndrome
Inguinal hernia, Diastasis recti, Camptodactyly, Umbilical hernia, Joint contracture of the hand,... OMIM:277590
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Umbilical hernia, Thin lower lip vermilion, Recurrent aspiration p... ORPHA:221139
Nicolaides-Baraitser Syndrome
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, High, narrow palate, Thick low... OMIM:601358
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:481152
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Myhre Syndrome
Inguinal hernia, Femoral hernia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnor... ORPHA:2588
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Inguinal hernia, Thick lower lip vermilion, Aspir... ORPHA:404448
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... ORPHA:1519
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Umbilical hernia OMIM:230740
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Camptodactyly of finger, Abnormality of the dentition ORPHA:178303
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Hypotonia, Cleft palate, Thick ve... OMIM:242840
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... ORPHA:2250
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Abnormality of the dentition ORPHA:88618
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Meester-Loeys Syndrome
Gingival overgrowth, High palate, Camptodactyly, Umbilical hernia, Joint contracture, Bifid uvula OMIM:300989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure OMIM:615398
Mucopolysaccharidosis Type 7
Umbilical hernia, Inguinal hernia ORPHA:584
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Atelectasis, High, narrow palate, Recurrent pneumonia, Chronic p... OMIM:188400
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Hemidystonia, Submucous cleft hard palate, Downturned corn... OMIM:619680
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Spina ... ORPHA:2780
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Congenital pulmonary... ORPHA:436252
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Menkes Disease
Inguinal hernia, Malabsorption, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical sc... ORPHA:565
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Intestinal malrotation, Tachypnea, Esophageal varix, Abnormal pulmonary intersti... OMIM:613658
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... ORPHA:2729
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture OMIM:620327
Ablepharon Macrostomia Syndrome
Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h... ORPHA:920
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Stillbirth, Flexion contracture, Cleft upper lip OMIM:308050
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia ORPHA:90673
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Ogden Syndrome
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Apnea, Abnormality of the... OMIM:300855
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Wide mouth, Umbilical... OMIM:618846
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Apnea, Abnormality of the dentition, Malabsorption, Genital hernia, Cystocele, A... ORPHA:285
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Hajdu-Cheney Syndrome
Inguinal hernia, Intestinal malrotation, Dental malocclusion, High palate, Narrow mouth, Umbilica... OMIM:102500
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth ORPHA:3426
Focal Dermal Hypoplasia
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Intestinal malrotation, Congenital diaph... OMIM:305600
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Thyroid Ectopia
Macroglossia, Umbilical hernia ORPHA:95712
Boutonneuse Fever
Respiratory failure ORPHA:83313
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Esophageal neoplasm, Adipose tissue loss, Chr... ORPHA:125
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia, Inguinal hernia OMIM:618188
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum, Infantile muscular hypotonia ORPHA:293725
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Pulmonary arterial hypertension, Cleft soft palate, Hypoxemia ORPHA:2282
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth, Gingival overgrowth, Long philtrum OMIM:259720
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Mucopolysaccharidosis Type 3
Inguinal hernia, Abnormality of the dentition, Malabsorption, Flexion contracture, Upper airway o... ORPHA:581
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Everted lower lip vermilion, High palat... OMIM:613884
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Narrow palate, High palate, Umbilical hernia, Tooth malposition, Flexi... OMIM:608328
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Deep philtru... ORPHA:647
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Respiratory insufficiency, Cleft palate, Respiratory failure, Sti... OMIM:304120
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,... OMIM:266920
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Abnormal lung lobation, Cleft palate, Stillbirth OMIM:236680
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Long philtrum, Thin upper lip vermilion, Hiatus hernia OMIM:610199
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Median cleft lip, Orofacial cleft ORPHA:3186
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:617193
Relapsing Polychondritis
Atelectasis, Dyspnea, Anteriorly placed anus, Recurrent aphthous stomatitis, Cough, Abnormal patt... ORPHA:728
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Omphalocele, Posteriorly placed anus, Total anomal... OMIM:306955
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Respiratory distress, Inguinal hernia, Aganglionic megacolon, Abnormal... ORPHA:798
Wrinkly Skin Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con... ORPHA:2834
Stickler Syndrome, Type I
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:108300
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:608594
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... OMIM:300166
Leigh Syndrome
Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration, Hypsarrhythmia ORPHA:506
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Inguinal hernia, Short philtrum, Camptodactyly, Umbilical hernia, Joint... OMIM:611962
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Generalized... ORPHA:457279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Malignant Atrophic Papulosis
Intestinal perforation, Intestinal fistula, Pleural effusion, Respiratory failure ORPHA:679
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Aganglionic megacolon, Recurrent upper respirator... OMIM:308205
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... ORPHA:217085
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
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
Tetrasomy 9P
Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Cleft upper lip, Esophageal atresia, Respiratory insufficiency, Ectopic anus, Pulmon... ORPHA:93271
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... ORPHA:217093
Cardiac Diverticulum
Omphalocele, Diastasis recti, Pulmonary artery stenosis, Partial anomalous pulmonary venous retur... ORPHA:1686
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cleft palate, Wid... ORPHA:116
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism OMIM:617660
Menke-Hennekam Syndrome 1
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Deep philtrum, Flexion co... OMIM:618332
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Stridor OMIM:218700
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:269700
Mucopolysaccharidosis Type 2
Inguinal hernia, Gingival overgrowth, Upper airway obstruction, Contractures of the large joints,... ORPHA:580
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, A... ORPHA:100050
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia, Neonatal respiratory distress OMIM:618164
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Duodenal ulcer, Intestinal ... OMIM:135900
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia ORPHA:90674
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Myhre Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Respiratory insufficiency, Respiratory failure... OMIM:139210
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Oeis Complex
Omphalocele, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula, Duplicated col... OMIM:258040
Aneurysm-Osteoarthritis Syndrome
Inguinal hernia, Camptodactyly of finger, Dental malocclusion, Cleft palate, Atypical scarring of... ORPHA:284984
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... OMIM:601803
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Alpha-Mannosidosis, Infantile Form
Macroglossia, Umbilical hernia, Widely spaced teeth, Pneumonia ORPHA:309282
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdomi... ORPHA:322
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Desmosterolosis
Intestinal malrotation, Rigidity, Submucous cleft hard palate, Cleft palate, Hypertonia, Narrow m... ORPHA:35107
Neu-Laxova Syndrome
Abnormality of the philtrum, Spina bifida, Flexion contracture, Submucous cleft hard palate, Clef... ORPHA:2671
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Spina bifida occulta,... OMIM:619227
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, ... ORPHA:84
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Respiratory failure, Narrow mouth, Anal atresia OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Jejunal atresia, Ileal atresia, Long philtrum OMIM:618820
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Anteriorly placed anus, Short upper lip, Wide mouth, Camptodactyly OMIM:200110
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fasciculations OMIM:252010
Walker-Warburg Syndrome
Bifid uvula, Submucous cleft hard palate, Hypotonia, Cleft palate ORPHA:899
Dubowitz Syndrome
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Velopharyngeal insufficiency, Submucou... OMIM:223370
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Emphysema, Broad uvula, Bifid uvula, Cleft s... OMIM:619472
Acromesomelic Dysplasia 4
Umbilical hernia OMIM:619636
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, High palate ORPHA:536545
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... OMIM:115150
Orofaciodigital Syndrome Type 4
Median cleft lip, Abnormal oral mucosa morphology, Camptodactyly of finger, High, narrow palate, ... ORPHA:2753
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... ORPHA:79404
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Axial hypotonia, Dental crowding, Submucous cleft soft palate, High, narrow palate, Hypotonia, Wi... OMIM:300967
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Inguinal hernia, Neonatal respiratory distress, Diastasis recti... OMIM:312870
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Apnea, Deep philtrum, Flexion contracture, Knee flexion contracture, Downturned ... OMIM:619503
Osteogenesis Imperfecta
Delayed eruption of teeth, Inguinal hernia, Abnormality of dental color, Intestinal obstruction, ... ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, narrow palate, Submucou... ORPHA:2658
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Camptodac... ORPHA:2273
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Chronic sinusitis OMIM:615636
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro... ORPHA:235
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Asthma, Recurrent pneumonia, High palate, Long philtrum, Umbilical hern... OMIM:620330
Loeys-Dietz Syndrome 2
Inguinal hernia, Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Cleft pala... OMIM:610168
Wrinkly Skin Syndrome
Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long philtrum, Microdonti... OMIM:278250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Aspartylglucosaminuria
Inguinal hernia, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival overgrowth,... ORPHA:93
Costello Syndrome
Pyloric stenosis, Achilles tendon contracture, Thick lower lip vermilion, Pneumothorax, Respirato... OMIM:218040
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Cigarett... ORPHA:286
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Peters Plus Syndrome
Intestinal fistula, Inguinal hernia, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upp... ORPHA:709
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Intellectual Developmental Disorder, Autosomal Dominant 54
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617799
Carpenter Syndrome 2
Carious teeth, High, narrow palate, Dental malocclusion, Narrow palate, Knee flexion contracture,... OMIM:614976
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Smoo... OMIM:619321
Floating-Harbor Syndrome
Thin upper lip vermilion, Inguinal hernia, Celiac disease, Carious teeth, Downturned corners of m... OMIM:136140
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Deep philtrum, Thin lower lip vermilion, Submucous cle... OMIM:619194
Loeys-Dietz Syndrome 3
Inguinal hernia, Eosinophilic infiltration of the esophagus, Cystocele, Dental malocclusion, Pneu... OMIM:613795
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick vermilion border, ... ORPHA:2636
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus ORPHA:79139
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Pallister-Hall Syndrome
Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate, Respiratory insuf... ORPHA:672
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Spina bifida, Ca... OMIM:114290
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Beckwith-Wiedemann Syndrome
Omphalocele, Macroglossia, Diastasis recti OMIM:130650
Charge Syndrome
Omphalocele, Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft... OMIM:214800
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hem... OMIM:600001
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Diastasis recti, Bilateral cleft lip, Cleft upp... OMIM:261540
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163681
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Hiatus hernia, Incisional hernia, Rectal prolapse, Cigarette-paper scars, Atroph... ORPHA:287
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Alternating Hemiplegia Of Childhood
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus ORPHA:2131
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Williams Syndrome
Rectal prolapse, Microdontia, Spina bifida occulta, Abnormal dental morphology, Abnormal dental e... ORPHA:904
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hernia, Umbilical ... ORPHA:2255
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dyspnea... ORPHA:2556
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... ORPHA:273
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Widely spaced teeth ORPHA:268261
Niemann-Pick Disease Type C
Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insuf... ORPHA:646
Unilateral Polymicrogyria
Appendicular hypotonia, Axial hypotonia, Spastic tetraplegia, Abnormal posturing ORPHA:268943
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Cleft palate, Downturned corners of mouth, Respiratory failure, Thin ve... ORPHA:500150
Zttk Syndrome
Abnormality of the dentition, Submucous cleft hard palate, Flexion contracture, Hypotonia, Downtu... OMIM:617140
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Umbilical hernia ORPHA:226307
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:255210
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Abetalipoproteinemia
Fat malabsorption, Respiratory failure, Steatorrhea ORPHA:14
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Holoprosencephaly 13, X-Linked
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... OMIM:301043
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Esophageal varix, Respiratory fai... ORPHA:731
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Pulm... ORPHA:3404
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Monosomy 22Q13.3
Umbilical hernia, Dental crowding, Dental malocclusion ORPHA:48652
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Marden-Walker Syndrome
Camptodactyly of finger, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mout... ORPHA:2461
Omodysplasia 1
Umbilical hernia, Long philtrum OMIM:258315
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Flexion contracture, Submucous cleft hard palate, Hydropic p... OMIM:275210
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Hypotonia, Dystonia OMIM:618891
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Pulmonary lymphangiomyoma... ORPHA:805
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Diamond-Blackfan Anemia
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon ORPHA:124
Cardiofaciocutaneous Syndrome
Submucous cleft hard palate, High palate, Hypotonia, Long philtrum ORPHA:1340
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Williams-Beuren Syndrome
Colonic diverticula, Inguinal hernia, Celiac disease, Rectal prolapse, Flexion contracture, Thick... OMIM:194050
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Liver Disease, Severe Congenital
Chronic gastritis, Inguinal hernia, Pneumonia, Protein-losing enteropathy, Cough, Umbilical herni... OMIM:619991
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure OMIM:301044
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Natal tooth, Thin upper lip vermilion, Lipoatrophy, Camptoda... ORPHA:3455
Cohen-Gibson Syndrome
Umbilical hernia, Flexion contracture, Camptodactyly OMIM:617561
Sotos Syndrome
Hip contracture, Inguinal hernia, Aganglionic megacolon, Ankle flexion contracture, Abnormality o... ORPHA:821
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... ORPHA:459070
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Large placenta, Submucous clef... ORPHA:1662
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Holoprosencephaly 2
Submucous cleft hard palate, Hypotonia, Bilateral cleft lip and palate, Generalized hypotonia, So... OMIM:157170
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Rectovaginal fistula, Umbilical ... OMIM:107480
Mowat-Wilson Syndrome
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261537
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Submucous cleft hard palate, Hypotonia, Bifid uvula, Neoplasm of the tongue ORPHA:3047
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... ORPHA:261552
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Submucous cleft hard palate, Hypotonia, Orofacial cleft... OMIM:607872
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:614756
Coffin-Siris Syndrome 12
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Hypotonia, High palate... OMIM:619325
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920

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 Slc32a1

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 Slc32a1.

No publications found that use IMPC mice or data for Slc32a1.

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
Slc32a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc32a1tm44210(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc32a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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