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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
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... 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, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
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
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy, Omphalocele OMIM:258320
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure OMIM:620398
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Arthrogryposis multiplex congenita, Multiple joint contractures, Neona... OMIM:611369
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Hyperekplexia 4
Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Camptodactyly, High palate, Flexion con... OMIM:618011
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:611726
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Atypical scarring of skin, Periodontitis, Umbilical hernia, Gingival recession... OMIM:617174
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ... 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
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur... OMIM:619605
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Narrow mouth, Omphalocele, Thin vermilion border ORPHA:1906
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Muscular Hypertonia, Lethal
Death in infancy, Umbilical hernia OMIM:254120
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... OMIM:619773
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Cleft palate ORPHA:718
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Accessory oral frenulum ORPHA:1373
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Respiratory insufficiency OMIM:618328
Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Miller-Dieker Syndrome
Abnormal upper lip morphology, EEG abnormality, Omphalocele ORPHA:531
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Congenital Myopathy 14
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Death in infancy, Respirato... OMIM:618414
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Joint contracture, Respiratory insufficiency OMIM:616081
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Omphalocele
Omphalocele ORPHA:660
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormal peripheral action potential amplitude, Fatiguable weakness of prox... ORPHA:90117
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Acalvaria
Cleft palate, Omphalocele, Abnormal lung lobation ORPHA:945
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Tented upper lip vermilion, Inguinal hernia, Macroglossia, High palate OMIM:616025
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Hig... OMIM:614399
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t... OMIM:617106
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Hypotonia, Omphalocele, Umbilical hernia OMIM:275100
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Nemaline Myopathy 8
Flexion contracture, Respiratory failure, Death in infancy OMIM:615348
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Hypotonia, Anal atresia, Omp... ORPHA:1707
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Diastasis recti, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Simpson-Golabi-Behmel Syndrome, Type 2
Neonatal respiratory distress, Recurrent upper respiratory tract infections, Inguinal hernia, Hig... OMIM:300209
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Wide mouth, Downturned corners of mouth, Umbilical hernia OMIM:273390
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, S... ORPHA:330050
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Gingival overgrowth, Median cleft palate, Respiratory failure ORPHA:1832
Benign Familial Neonatal-Infantile Seizures
Focal clonic seizure, Tonic seizure, Neonatal seizure, Bilateral tonic-clonic seizure ORPHA:140927
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure OMIM:615362
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory insufficiency due to muscle weakness, High palate, Arthrogryposis mul... OMIM:611890
Achondrogenesis, Type Ib
Respiratory insufficiency, Umbilical hernia, Inguinal hernia, Stillbirth OMIM:600972
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic-atoni... OMIM:619701
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619301
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Respiratory insufficiency, High palate, Arthro... OMIM:201550
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619302
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Coffin-Siris Syndrome 3
Long philtrum, Umbilical hernia, Delayed eruption of permanent teeth, Inguinal hernia, Thick verm... OMIM:614608
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical hernia ORPHA:75497
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure OMIM:616981
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re... ORPHA:70589
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Omphalocele, Cleft palate ORPHA:2736
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure OMIM:301020
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Bilateral cleft palate, Bilateral cleft lip, Omphalocele OMIM:601357
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
Schisis Association
Unilateral cleft lip, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, An... ORPHA:63862
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure, Seizure OMIM:226750
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure OMIM:620317
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Decreased motor nerve conduction velocity, Respiratory insufficiency, Gingival ove... OMIM:618186
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Umbilical hernia, Narrow mouth, Inguinal hernia, Deep philtru... OMIM:615834
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Smooth philtrum, High... OMIM:613544
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Respira... OMIM:619334
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Oligodontia, High palate, Cleft... OMIM:600325
Intermediate Nemaline Myopathy
High, narrow palate, Long philtrum, Flexion contracture, Arthrogryposis multiplex congenita, Resp... ORPHA:171433
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long philtrum, Omphalocele OMIM:190440
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Abnormality of connective tissue, Fa... ORPHA:370968
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short philtrum, Abnormal oral cavity morphology, Open mouth, Umbilical hernia ORPHA:1516
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Respiratory failure OMIM:613435
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor... ORPHA:70588
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia OMIM:601163
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni... OMIM:612736
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:613970
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Gingival overgrowth, Inguin... ORPHA:137834
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Umbilical hernia, Narrow mouth, Joint cont... ORPHA:352490
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia ORPHA:2349
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Esophagitis, ... ORPHA:3348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona... OMIM:610978
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Omphalocele OMIM:614450
Adams-Oliver Syndrome 4
Umbilical hernia OMIM:615297
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... ORPHA:723
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure ORPHA:70587
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd fi... ORPHA:2872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Aarskog-Scott Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Cleft upper lip, Camptoda... ORPHA:915
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Neonatal respiratory distress, Congenital contracture, Long philtrum, Pursed lips, Umbilical hern... OMIM:616266
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:204200
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Clonic seizure, Bil... OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency OMIM:313420
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia OMIM:274400
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:352582
Developmental And Epileptic Encephalopathy 89
Long philtrum, EEG with burst suppression, Death in childhood, Neonatal death, Thin upper lip ver... OMIM:619124
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory failure, Omphalocele, Pulmonary hypoplasia OMIM:617895
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1263
Cleft Soft Palate
Cleft soft palate OMIM:119570
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia, Inguinal hernia OMIM:620326
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Omphalocele ORPHA:93267
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Oral ulcer, Bronchiectasis, Atelectasis OMIM:620321
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Intestinal malrotation, Exaggerated cupid's bow, Thin upper lip vermilion, Short p... OMIM:618316
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Umbilical hernia ORPHA:2181
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, ... OMIM:612938
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Ullrich Congenital Muscular Dystrophy
Elbow flexion contracture, Knee flexion contracture, Abnormal palate morphology, Flexion contract... ORPHA:75840
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Imagawa-Matsumoto Syndrome
Camptodactyly, Anteriorly placed anus, Umbilical hernia OMIM:618786
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp... ORPHA:199302
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Flexion contracture, Arthrogryposis multiplex congenita, Respirato... OMIM:616867
Isolated Anencephaly
Cleft lip, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Transient Neonatal Diabetes Mellitus
Macroglossia, Umbilical hernia ORPHA:99886
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Anal atresia, Respiratory failure, Stillbirth OMIM:276950
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Seizure ORPHA:209370
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Diastasis recti, Inguinal hernia, Open mouth, Exaggerated cupid's bow, Wrist fl... ORPHA:254528
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal atresia, Cleft palate ORPHA:95706
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Smooth philtrum, Omphalocele, Flexion co... OMIM:263210
Achondrogenesis
Inguinal hernia, Long philtrum, Umbilical hernia ORPHA:932
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:609924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Seizure, Bilateral tonic-clonic seizure OMIM:604317
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... OMIM:263000
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Omphalocele, Cleft palate, Bladder exstro... OMIM:217100
Auriculocondylar Syndrome 2B
Hypotonia, Narrow mouth, Mandibular condyle hypoplasia, Opisthotonus, Omphalocele OMIM:620458
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Achilles tendon contracture OMIM:604801
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, High palate, Atelectasis, Neonatal death OMIM:300219
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestinal malrotation,... OMIM:243150
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Omphaloce... OMIM:175700
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Umbilical hernia ORPHA:1035
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Generalized hypotonia, Hypotonia, Multip... OMIM:128100
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hern... OMIM:616331
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a... ORPHA:1929
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Hypotonia, Cleft soft palate, Esophageal atresia, High ... OMIM:618779
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
Autosomal Recessive Spondylocostal Dysostosis
Long philtrum, Camptodactyly of finger, Umbilical hernia, Respiratory insufficiency, Congenital d... ORPHA:2311
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Achondrogenesis Type 1B
Femoral hernia, Long philtrum, Umbilical hernia ORPHA:93298
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Long philtrum, Hypotonia, Narrow mouth, Inguinal hernia, Thin... OMIM:158170
Progeroid Syndrome, Petty Type
Tooth agenesis, Umbilical hernia, Reduced subcutaneous adipose tissue, Everted lower lip vermilio... ORPHA:2963
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Intestinal malrotation, Pulmonary situs ambiguus, Res... ORPHA:244
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor sei... ORPHA:268947
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Open mouth, Tented upper lip vermilion, Diastasis recti, Thin upper lip vermili... OMIM:616579
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... ORPHA:99931
Rin2 Syndrome
Long philtrum, Abnormal lip morphology, Umbilical hernia, Gingival overgrowth, Irregular dentitio... ORPHA:217335
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:95717
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Omphalocele, Cleft palate, Pulm... OMIM:313850
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Hypotonia, Diastasis recti, Omphalocele, Umbilical hernia ORPHA:254534
Achondrogenesis Type 1A
Femoral hernia, Long philtrum, Umbilical hernia ORPHA:93299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft lip, Natal tooth, Lobulated tongue, Respiratory insufficiency, Hamartoma of tongue, Incompl... OMIM:616300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 43
Umbilical hernia, Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip vermilion... OMIM:616977
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, Submucous cleft sof... OMIM:612292
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Umbilical hernia ORPHA:2196
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Short-Rib Thoracic Dysplasia 12
Natal tooth, Lobulated tongue, Atelectasis, Respiratory insufficiency, Hamartoma of tongue, Intes... OMIM:269860
Triploidy
Intestinal malrotation, Narrow mouth, Omphalocele, Macroglossia, Wide mouth, Non-midline cleft of... ORPHA:3376
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Sandestig-Stefanova Syndrome
Orofacial cleft, EEG abnormality, Camptodactyly, High palate, Respiratory failure OMIM:618804
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Decreased miniature endplate potentials, High palate, Fatigab... ORPHA:98913
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Death in infancy, Short philtrum, Wide mouth, Respiratory failure, Flexi... ORPHA:1194
Foxg1 Syndrome
Infantile spasms, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:561854
Fryns Syndrome
Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotation, Tented upper lip vermi... ORPHA:2059
Cooper-Jabs Syndrome
Anteriorly placed anus, Respiratory insufficiency, Umbilical hernia, Camptodactyly of finger, Con... ORPHA:1488
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Periodontitis, Umbilical hernia, Gingival recession, Atrophic scars, Inguinal ... OMIM:130080
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Downturned corners of mouth, Widely spaced teeth, Umbilical her... ORPHA:369891
Kagami-Ogata Syndrome
Long philtrum, Generalized hypotonia, Hypotonia, Diastasis recti, Inguinal hernia, Omphalocele, F... OMIM:608149
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Sialidosis Type 2
Flexion contracture, Inguinal hernia, Umbilical hernia ORPHA:87876
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Pelger-Huet Anomaly
Abnormality of the dentition, Gingival overgrowth, Median cleft palate, Umbilical hernia OMIM:169400
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Multifocal epileptiform discharges, Respiratory failure ORPHA:70472
Mesomelia-Synostoses Syndrome
High, narrow palate, Long philtrum, Aplasia/Hypoplasia of the uvula, Umbilical hernia, Narrow mou... ORPHA:2496
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Atelectasis, Respiratory insufficiency, Open mouth, Protruding tongue, Increased co... ORPHA:258
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Non-midline cleft of the upper lip, Cleft palate, Umbilical hernia ORPHA:1770
Developmental And Epileptic Encephalopathy 47
Tonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:617166
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617493
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Respiratory failure, Reduced intraabdominal adipose tissue, Reduced su... ORPHA:363400
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Luo-Schoch-Yamamoto Syndrome
Widely-spaced maxillary central incisors, Umbilical hernia, Narrow mouth, Thick vermilion border,... OMIM:619460
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Achilles tendon contracture, High palate, Respiratory failure, Cleft palate OMIM:620249
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Inguinal hernia, Pierre-Robin sequence OMIM:620183
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut... ORPHA:36238
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing OMIM:304700
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Umbilical hernia, Inguinal hernia, Microdontia, Hypodontia, Everted lower lip verm... OMIM:601499
Smith-Kingsmore Syndrome
Long philtrum, Umbilical hernia, Open mouth, Diastasis recti, Thin upper lip vermilion, Smooth ph... OMIM:616638
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Houge-Janssens Syndrome 3
Short philtrum, High palate, Inguinal hernia, Umbilical hernia OMIM:618354
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Respiratory insufficiency, Omphalocele, Recurrent r... ORPHA:2484
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Gingivitis, Rec... ORPHA:2314
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Long philtrum, Umbilical hernia ORPHA:171839
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal hernia, Thin upper lip vermilio... ORPHA:329224
Joint Laxity, Short Stature, And Myopia
Inguinal hernia, Umbilical hernia OMIM:617662
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Teebi Hypertelorism Syndrome 1
Natal tooth, Dental crowding, Long philtrum, Thin upper lip vermilion, Omphalocele, Pulmonary hyp... OMIM:145420
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Submucous cleft hard palate OMIM:601492
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis,... ORPHA:449280
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Shoulder flexion contracture, Pursed lips, Umbilical hernia, Narro... OMIM:255800
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Meckel Syndrome, Type 2
Intestinal malrotation, Cleft palate, Omphalocele OMIM:603194
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Atelectasis, Camptodactyly of finger ORPHA:896
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Orofacial cleft, Omphalocele, Non-midline cleft of the upper lip... ORPHA:1335
Opitz Gbbb Syndrome
Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula, Inguinal hernia, ... OMIM:300000
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Tented upper lip vermilion, Respiratory failure, Flexion contracture OMIM:616505
Fibrochondrogenesis
Respiratory insufficiency, Camptodactyly of finger, Narrow mouth, Omphalocele, Cleft palate ORPHA:2021
Axial Mesodermal Dysplasia Spectrum
Gingival overgrowth, Congenital diaphragmatic hernia, Abnormal intestine morphology, Tracheoesoph... ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Achilles tendon contracture, Respiratory failure, Elbow contracture OMIM:606612
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Progressive spastic paraplegia, Thick u... OMIM:247200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure OMIM:600721
Caudal Duplication
Intestinal duplication, Omphalocele ORPHA:1756
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Focal motor seizure, Seizure OMIM:619911
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Chromosome 10Q26 Deletion Syndrome
Long philtrum, Generalized hypotonia, Hypotonia, Thin upper lip vermilion, Smooth philtrum, Ompha... OMIM:609625
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Thick lower lip vermilion, Congenital diaphra... ORPHA:1692
Lymphatic Malformation 12
Neonatal respiratory distress, Inguinal hernia, Neonatal death, Death in adolescence, Pleural thi... OMIM:620014
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Hypotonia, Protruding tongue, Inguinal hernia, Submucous cleft hard palate, Thic... OMIM:618106
C Syndrome
Generalized hypotonia, Hypotonia, Thick anterior alveolar ridges, Omphalocele, High palate, Wide ... OMIM:211750
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormality of the philtrum, Recurrent... ORPHA:2759
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Hernia, Umbilical hernia ORPHA:3197
Lethal Congenital Contracture Syndrome 10
Long philtrum, Omphalocele, High palate, Macroglossia, Narrow palate, Pulmonary hypoplasia OMIM:617022
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Umbilical hernia OMIM:618272
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Recurrent ... OMIM:613177
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Cantu Syndrome
Long philtrum, Umbilical hernia, Thick upper lip vermilion, Thick lower lip vermilion, Gingival o... OMIM:239850
Trisomy 1Q
Camptodactyly of finger, Narrow mouth, Congenital diaphragmatic hernia, Omphalocele, Anal atresia... ORPHA:261344
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Umbilical hernia, Exaggerated cupid's bow, Deep philtrum, Thin vermi... OMIM:615879
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Schneckenbecken Dysplasia
Umbilical hernia, Cleft palate, Stillbirth OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Long philtrum OMIM:312170
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:617600
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Seizure, Bilateral tonic-clonic seizure OMIM:619827
Focal Dermal Hypoplasia
Abnormality of the dentition, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel m... ORPHA:2092
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614487
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Abnormal lip morphology, Abnormal upper lip morphology, Microdontia, Smooth ... ORPHA:2707
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Umbilical hernia, Open bite, Abnormal dental morphology, High palate ORPHA:3079
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa... OMIM:604320
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Omphalocele, Pulmonary hypoplasia ORPHA:3035
Fibrochondrogenesis 1
Joint contracture of the hand, Long philtrum, Narrow mouth, Omphalocele, Stillbirth, Camptodactyl... OMIM:228520
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Dental crowding, Umbilical hernia OMIM:619769
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Long philtrum, Cleft palate, Umbilical hernia ORPHA:2505
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:615716
Halperin-Birk Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Death in childhood, Thick ver... OMIM:618651
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset seizure, Focal tonic ... ORPHA:168491
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure ORPHA:464282
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Atypical scarring of skin, Umbilical hernia, Atrophic scars, Inguinal hernia, Ventral... OMIM:618000
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Vacterl/Vater Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Omph... ORPHA:887
Pseudotrisomy 13 Syndrome
Cleft upper lip, Generalized hypotonia, Hypotonia, Median cleft palate, Median cleft upper lip, O... OMIM:264480
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Umbilical hernia, E... ORPHA:85321
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Abnormal flash visual evoked potentials,... ORPHA:98755
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure ORPHA:91131
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morphology, Narrow mouth, Ten... OMIM:612582
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia, Facial hypotonia, Axial hypotonia OMIM:614526
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Seizure ORPHA:529665
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Joint contracture of the hand, Anal stenosis, Natal tooth, Dental malocclusion, Dent... OMIM:300373
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Long philtrum, Umbilical hernia, Respiratory insufficiency, Inguinal hernia, Death in childhood, ... OMIM:614052
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft lip, Umbilical hernia, Hypotonia, Inguinal hernia, Congenital diaphragmatic hernia, Thin up... OMIM:618454
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s... ORPHA:363558
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory failure, Pulmonary infiltrates ORPHA:70578
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure ORPHA:2254
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Long philtrum, Camptodactyly of finger, Umbilical hernia, Inguinal... ORPHA:2990
Intellectual Developmental Disorder, Autosomal Dominant 48
Open mouth, Umbilical hernia OMIM:617751
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Distal Deletion 19P
Keloids, Umbilical hernia, Vaginal hernia, Short philtrum, Cleft palate ORPHA:96129
Fg Syndrome Type 1
Abnormal large intestine morphology, Dental crowding, Long philtrum, Umbilical hernia, Open mouth... ORPHA:93932
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Multiple impacted teeth, Omphalocele, Cleft palate OMIM:311300
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Familial Visceral Myopathy
Umbilical hernia, Camptodactyly of finger, Aganglionic megacolon, Aplasia/Hypoplasia of the abdom... ORPHA:2604
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Umbilical hernia, Atrophic scars, Gingival overgrowth, Frontal open bite, Ingu... OMIM:225410
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Agenesis of permanent teeth, Persistence of prim... OMIM:201000
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Umbilical hernia, Open mouth, Inguinal hernia, Submucous cleft hard... OMIM:192430
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Thick lower lip vermilion, Umbilical hernia, Inguinal ... ORPHA:261652
Kniest Dysplasia
Hip contracture, Inguinal hernia, Cleft palate, Umbilical hernia OMIM:156550
Avian Influenza
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Res... ORPHA:454836
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:313772
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Umbilical hernia, Ankyloglossia, Inguinal hernia, Congenit... ORPHA:2745
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Camptodactyly of finger, Umbilical her... ORPHA:261318
Pseudo-Torch Syndrome 1
High palate, Cleft lip, Long philtrum, Umbilical hernia OMIM:251290
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Tented upper lip vermilion, Increased connective tis... ORPHA:98905
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Open mouth, Umbilical hernia ORPHA:500159
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Camptodactyly of finger, Submucous cleft hard palate, Hypodontia, Glossoptosis ORPHA:3201
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Omphalocele OMIM:601927
Trisomy 18
Narrow palate, Camptodactyly of finger, Hypotonia, Narrow mouth, Congenital diaphragmatic hernia,... ORPHA:3380
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia ORPHA:95715
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure ORPHA:309155
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure OMIM:620296
Macs Syndrome
Long philtrum, Umbilical hernia, Recurrent aphthous stomatitis, Gingival overgrowth, Thick vermil... OMIM:613075
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Elbow contracture, Inguinal hernia, Death in infancy, Umbilical hernia OMIM:620275
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, D... OMIM:265380
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Atypical scarri... ORPHA:534
Lateral Meningocele Syndrome
Keloids, Dental crowding, Long philtrum, Umbilical hernia, Inguinal hernia, Smooth philtrum, Meni... OMIM:130720
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awar... OMIM:618325
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Umbilical hernia, Inguinal hernia, Thin vermilion bor... ORPHA:1620
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Umbilical hernia, Bowel diverticulosis, Inguinal hernia, Irregularly space... OMIM:130000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Fatigable weakness, Bilateral tonic-clonic seizure, Febrile s... ORPHA:42
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Dental malocclusion, Downturned corners of mouth, Long philtrum, U... OMIM:265000
Alg1-Cdg
Protein-losing enteropathy, Respiratory failure ORPHA:79327
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Scarf Syndrome
Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia, Enamel hypoplasia, Hypocalcifi... ORPHA:3134
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Umbilical hernia, Inguinal hernia, Smooth philtrum, Meningo... ORPHA:2789
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Roifman-Chitayat Syndrome
Thin lower lip vermilion, Umbilical hernia OMIM:613328
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Inguinal hernia, Umbilical hernia OMIM:219150
Muscular Dystrophy, Congenital, With Or Without Seizures
Interictal epileptiform activity, Respiratory failure OMIM:620166
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Joint contracture of the hand, Dental crowding, Long philtrum, Clef... OMIM:305450
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Umbilical hernia OMIM:614520
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypotonia, Abnormal posturing, Inguinal hernia OMIM:614857
Juvenile Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue, Inguinal hernia ORPHA:93399
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Death in childhood, Death in infancy, Joint contracture, High pala... OMIM:620278
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Thin upper lip vermilion, High palate, Wide mouth, Umbilical hernia OMIM:620475
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Spina bifida occul... OMIM:618291
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Amme Complex
Thin upper lip vermilion, Diastasis recti, Inguinal hernia, Umbilical hernia OMIM:300194
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Fryns Syndrome
Joint contracture of the hand, Chylothorax, Meckel diverticulum, Long philtrum, Cleft upper lip, ... OMIM:229850
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Inguinal hernia OMIM:619122
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Generalized hypotonia, Open mouth, Submucous cleft hard p... OMIM:617412
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Umbilical hernia, Intestinal malrotation, Narrow mouth, Orofacial cleft, ... ORPHA:2166
Hurler-Scheie Syndrome
Umbilical hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the... OMIM:607015
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Death in infancy ORPHA:99742
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Cleft hard palate ORPHA:166016
Sandifer Syndrome
Hiatus hernia, Esophagitis, Abnormal posturing, Torticollis ORPHA:71272
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Tooth agenesis, Umbilical hernia, Narrow mouth, Narrow palate, Cleft palate ORPHA:1555
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia ORPHA:226313
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve... OMIM:309900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Dent Disease 2
Umbilical hernia OMIM:300555
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Narrow mouth, Anodontia, Oligodontia, Omphalocele, Glossoptosis, Pierre-... ORPHA:90652
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Smooth philtrum, Umbilical hernia ORPHA:1778
Chromosome 18Q Deletion Syndrome
Bifid uvula, Downturned corners of mouth, Cleft upper lip, Umbilical hernia, Inguinal hernia, Thi... OMIM:601808
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Kagami-Ogata Syndrome
Pursed lips, Diastasis recti, Inguinal hernia, Omphalocele, Broad philtrum, Respiratory failure r... ORPHA:254519
Icf Syndrome
Macroglossia, Protruding tongue, Umbilical hernia ORPHA:2268
Loeys-Dietz Syndrome 5
Bifid uvula, Neonatal hypotonia, Hypotonia, Cleft soft palate, Tented upper lip vermilion, Inguin... OMIM:615582
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure, Widely spaced teeth OMIM:135100
Arthrogryposis, Distal, Type 3
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Knee flexion contracture, Camp... OMIM:114300
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure OMIM:619725
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat... ORPHA:333
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Death in infancy, Omphalocele ORPHA:2241
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness OMIM:606071
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Marshall-Smith Syndrome
Eclabion, Anteriorly placed anus, Umbilical hernia, Hypotonia, Gingival overgrowth, Irregular den... OMIM:602535
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Median pseudocleft lip, Wide mouth, Umbilical hernia OMIM:619758
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Knee flexion contracture, Achilles tendon contracture, Flexion contractur... OMIM:310200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Amyotrophic Lateral Sclerosis
Xerostomia, Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Tong... ORPHA:803
Chand Syndrome
Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenes... ORPHA:1401
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Achilles tendon contracture OMIM:603689
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Tooth malposition, Widened atrophic scar, Periodontitis, Umbilical hernia, Inguinal h... ORPHA:536532
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Umbilical hernia OMIM:617952
Arterial Tortuosity Syndrome
Bifid uvula, Long philtrum, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, H... OMIM:208050
Metatropic Dysplasia
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi... OMIM:156530
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Delayed eruption of teeth, Intestinal ... OMIM:235510
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia OMIM:222448
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Respiratory failure, Cleft palate ORPHA:158687
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Native American Myopathy
Bifid uvula, Congenital contracture, Downturned corners of mouth, Respiratory insufficiency, Subm... ORPHA:168572
Immunodeficiency 49
Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Autosomal Recessive Robinow Syndrome
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Camptodactyly of finger... ORPHA:1507
Holoprosencephaly
Respiratory insufficiency, Tooth agenesis, Median cleft palate, Congenital diaphragmatic hernia, ... ORPHA:2162
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Inguinal hernia, Long philtrum, Umbilical hernia ORPHA:1292
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Umbilical hernia ORPHA:3218
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia OMIM:614856
C Syndrome
Long philtrum, Hypotonia, Gingival overgrowth, Congenital diaphragmatic hernia, Death in infancy,... ORPHA:1308
Mucolipidosis Type Iii Alpha/Beta
Flexion contracture, Gingival overgrowth, Diastasis recti, Umbilical hernia ORPHA:423461
Severe Congenital Nemaline Myopathy
Increased connective tissue, Flexion contracture, Arthrogryposis multiplex congenita, Respiratory... ORPHA:171430
Hyperekplexia 1
Inguinal hernia, Umbilical hernia OMIM:149400
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms ORPHA:79264
Whim Syndrome
Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelect... ORPHA:51636
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Neonatal respiratory distress, Elbow flexion contracture, Multipl... ORPHA:70
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Umbili... OMIM:618914
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Arthrogryposis Multiplex Congenita 5
Neonatal respiratory distress, Long philtrum, Umbilical hernia, Elbow flexion contracture, Inguin... OMIM:618947
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Knee flexion... OMIM:608836
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Atelectasis, Respiratory insufficiency, Tented upper lip vermilion, Smooth philtru... OMIM:620371
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Spasticity, Abnormal posturing, Generalized dystonia ORPHA:216866
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Esophageal Atresia
Pyloric stenosis, Barrett esophagus, Cleft lip, Bronchitis, Intestinal malrotation, Esophagitis, ... ORPHA:1199
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Atelectasis, Respiratory insufficiency, Long philtrum, ... ORPHA:536467
Congenital Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue, Inguinal hernia ORPHA:93400
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Umbilical hernia, Oligodontia ORPHA:2095
Huntington Disease-Like 1
Abnormal posturing, Generalized hypotonia ORPHA:157941
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Progressive extrapyramidal muscular rigidity, Infantile axial hypotonia, Infa... ORPHA:225147
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du... ORPHA:365
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Anencephaly, Clef... ORPHA:2189
1Q41Q42 Microdeletion Syndrome
Cleft palate, Congenital diaphragmatic hernia, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Umbilical hernia OMIM:252900
Tatton-Brown-Rahman Syndrome
Deep philtrum, Widely-spaced maxillary central incisors, Umbilical hernia ORPHA:404443
Thyroid Hemiagenesis
Macroglossia, Umbilical hernia ORPHA:95719
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly... ORPHA:1299
Omphalocele Syndrome, Shprintzen-Goldberg Type
Neonatal respiratory distress, Downturned corners of mouth, Thin upper lip vermilion, Omphalocele... ORPHA:3164
2Q37 Microdeletion Syndrome
Downturned corners of mouth, Umbilical hernia, Congenital diaphragmatic hernia, Thin vermilion bo... ORPHA:1001
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Cleft upper lip, Umbilical hernia, Camptodactyly of finger, Hypotonia, Ingui... ORPHA:373
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Hypoplasia of the small intestine, Extrapulmonary lobar sequestra... OMIM:200995
Snakebite Envenomation
Gingival bleeding, Respiratory failure ORPHA:449285
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
3Mc Syndrome 1
Cleft lip, Dental crowding, Cleft upper lip, Diastasis recti, Abnormality of the abdominal wall, ... OMIM:257920
Adams-Oliver Syndrome 5
Inguinal hernia, Esophageal varix, Umbilical hernia OMIM:616028
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Smooth philtrum, Umbilical hernia, Oligodontia OMIM:619234
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Short... OMIM:613776
Carpenter Syndrome
Umbilical hernia ORPHA:65759
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Gapo Syndrome
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Abnormal palate morphology, Everted l... ORPHA:2067
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Umbilical hernia, Exaggerated cupid's bow, Macroglossia, High palate, Wide mouth OMIM:614501
Rhizomelic Chondrodysplasia Punctata, Type 2
Generalized hypotonia, Hypotonia, Inguinal hernia, Submucous cleft hard palate, Hip contracture, ... OMIM:222765
Developmental And Epileptic Encephalopathy 95
Widely spaced teeth, Umbilical hernia, Gingival overgrowth, Inguinal hernia, Multiple joint contr... OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle wea... OMIM:220110
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Dental malocclusion, Shoulder flexion contracture, Pursed lips, Long philtr... ORPHA:800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Holoprosencephaly 7
Unilateral cleft lip, Median cleft palate, Bilateral cleft palate, Median cleft upper lip, Bilate... OMIM:610828
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:79243
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Alg9-Cdg
Bifid uvula, Long philtrum, Hypotonia, Villous atrophy, Thin upper lip vermilion, Smooth philtrum... ORPHA:79328
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Umbilical hernia, Intestinal malrotation, Rectal fi... OMIM:115470
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Abdominal wall defect, Umbilical hernia, Gingival overgrowth, Macr... ORPHA:96191
Hurler Syndrome
Umbilical hernia, Gingival overgrowth, Inguinal hernia, Microdontia, Hernia, Thick vermilion bord... OMIM:607014
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Camptoda... ORPHA:2710
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:610042
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Respiratory failure ORPHA:3240
Scarf Syndrome
Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia, Enamel hypoplasia OMIM:312830
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:544503
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Omphalocele, Stillbirth, Recurrent respiratory infe... OMIM:309350
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w... ORPHA:308552
Codas Syndrome
Delayed eruption of teeth, Generalized hypotonia, Hypotonia, Enamel hypoplasia, Omphalocele, Anal... OMIM:600373
De Barsy Syndrome
Delayed eruption of teeth, Umbilical hernia, Narrow mouth, Inguinal hernia, Small, conical teeth,... ORPHA:2962
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul... OMIM:618278
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dental crowding, Long philtrum, Umbilical hernia, Open mouth, Inguinal hernia, Thin upper lip ver... OMIM:620654
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Bilateral tonic-clonic seizure with focal onset ORPHA:254881
9P13 Microdeletion Syndrome
High palate, Umbilical hernia ORPHA:324313
3Mc Syndrome
Downturned corners of mouth, Umbilical hernia, Diastasis recti, Orofacial cleft, Spina bifida occ... ORPHA:293843
D-Glyceric Aciduria
Seizure, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus OMIM:220120
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Dental malocclusion, Umbilical hernia, Inguinal hernia, Minimal su... OMIM:182212
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
Craniorachischisis
Anal atresia, Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Brittle Cornea Syndrome 2
Inguinal hernia, Umbilical hernia OMIM:614170
Myoectodermal Gonadal Dysgenesis Syndrome
Long philtrum, Diastasis recti, Hypodontia, Smooth philtrum, Omphalocele, Thin vermilion border, ... OMIM:618419
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Cleft upper lip, Oral synechia, Inguinal hernia, Anal atresia, Omph... OMIM:263650
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
W Syndrome
Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, Agenesis of maxillary cen... ORPHA:2804
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Respiratory failure ORPHA:280210
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Neonatal respiratory distress, Long philtrum, Anteriorly... OMIM:117650
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Esophagitis, Median cleft palate, Inguinal hernia, Hiatus hernia, Pulmo... ORPHA:3342
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralytic ileus, Fatigable weakness of respiratory musc... ORPHA:2912
Autosomal Dominant Robinow Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Open bi... ORPHA:3107
Buratti-Harel Syndrome
Bifid uvula, Velopharyngeal insufficiency, Submucous cleft hard palate, Infantile muscular hypoto... OMIM:619314
Tolchin-Le Caignec Syndrome
Umbilical hernia, Diastasis recti, Narrow mouth, Submucous cleft hard palate, High palate OMIM:618971
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Dental crowding, Recurrent respiratory infections, Aspiration pneumoni... ORPHA:2020
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral to... ORPHA:480864
Shprintzen Omphalocele Syndrome
Generalized hypotonia, Hypotonia, Omphalocele, Thin vermilion border, Anal atresia OMIM:182210
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Long philtrum, Umbilical hernia, Camptodactyly of finger, Inguinal hernia ORPHA:1101
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Umbilical hernia, Protruding tongue, Thick vermilion border,... OMIM:301040
Zygomycosis
Cellulitis, Colon perforation, Atelectasis, Fasciitis, Pleural effusion, Parenchymal consolidatio... ORPHA:73263
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Spasticity, Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Sp... OMIM:619950
Iniencephaly
Narrow mouth, Congenital diaphragmatic hernia, Orofacial cleft, Omphalocele, Anal atresia, Arthro... ORPHA:63259
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Atypical scarring of skin, Widened atrophic scar, Umbilical hernia, Elbow fl... ORPHA:1900
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... OMIM:268310
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, Gingival overgrowth,... OMIM:300868
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Umbilical hernia, Narrow mouth, Inguinal hernia, Camptodactyly, Hig... OMIM:616145
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick l... OMIM:280000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Cantú Syndrome
Umbilical hernia, Wide mouth, Long philtrum, Thick vermilion border ORPHA:1517
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Seizure ORPHA:364028
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Downturned corners of mouth, Pleural effusion, Respiratory failure ORPHA:3015
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Leukocyte Adhesion Deficiency Type Ii
Umbilical hernia, Gingival overgrowth, Protruding tongue, Scarring, Deep philtrum, Long upper lip... ORPHA:99843
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Umbilical hernia OMIM:104350
Genetic Transient Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:226316
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Epileptic spasm, Tonic seizure, Clonic seizure, Bilateral tonic-clonic seizure... OMIM:619580
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Respiratory failure, Myelopathy, Death in childhood OMIM:617186
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele ORPHA:371428
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 27
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:616672
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Umbilical hernia, Gingival... OMIM:135500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Long philtrum, Diastasis recti, Narrow mouth, Tented... ORPHA:96334
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Widely spaced teeth, Gingival overgrowth, Diastasis recti, Macroglossia, Flexio... OMIM:253220
Pagod Syndrome
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery... ORPHA:991
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Orofacial cleft, Odonto... ORPHA:77301
Cloacal Exstrophy
Intestinal duplication, Intestinal malrotation, Cloacal exstrophy, Omphalocele, Anal atresia, Bla... ORPHA:93929
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Camptodactyly of finger, Intestinal malrotation, Hypotonia, Axial h... OMIM:249000
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Omphalocele OMIM:248450
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Hypotonia, Cleft soft ... OMIM:620450
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Flexion contracture, Arthrogryposis multiplex congeni... OMIM:617301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Atrophic scars, Cleft soft palate, Inguinal hernia, Redundant umbilical skin OMIM:614557
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Submucous cleft hard palate OMIM:164220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617281
Mucolipidosis Ii Alpha/Beta
Arthrogryposis multiplex congenita, Myelopathy, Long philtrum, Umbilical hernia, Progressive alve... OMIM:252500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Cree Impaired Intellectual Development Syndrome
Cleft soft palate OMIM:606851
Craniofrontonasal Syndrome
Abnormality of the dentition, Cleft upper lip, Umbilical hernia, Congenital diaphragmatic hernia,... OMIM:304110
Robinow Syndrome
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hernia, Ankylog... ORPHA:97360
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Camptodactyly of finger, Narrow mouth, Submucous cleft hard pal... ORPHA:2554
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Widely spaced teeth, Arthrogryposis multiplex congenita, Respiratory failure... ORPHA:496641
Martin-Probst Syndrome
Wide mouth, Dental malocclusion, Umbilical hernia, Thick lower lip vermilion OMIM:300519
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Long philtrum, Gingival overgrowth, Stillbirth, Respirator... OMIM:259720
Hajdu-Cheney Syndrome
Abnormality of the dentition, Periodontitis, Downturned corners of mouth, Long philtrum, Umbilica... ORPHA:955
Bilateral Polymicrogyria
Seizure, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic... ORPHA:268940
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Pleural effusion, Respiratory failure ORPHA:542323
Weaver Syndrome
Joint contracture of the hand, Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia,... OMIM:277590
Nicolaides-Baraitser Syndrome
High, narrow palate, Long philtrum, Thick lower lip vermilion, Widely spaced teeth, Umbilical her... OMIM:601358
Myhre Syndrome
Bifid uvula, Gingival cleft, Unilateral cleft lip, Abnormal lip morphology, Narrow mouth, Inguina... ORPHA:2588
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... OMIM:615512
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Umbilical hernia, Intestinal malrotation, Atrophic scars, Narrow mouth, Diastasis ... OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sei... OMIM:616973
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Incontinentia Pigmenti
Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal d... ORPHA:464
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Recurrent pneumonia, Atelectasis, Pleural effusion, Rectal abscess, Air bronchogram OMIM:306400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure ORPHA:481152
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal lung lobation, Umb... ORPHA:2052
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Hypodontia, Abnormal pulmonary interstitial m... ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cleft lip, Umbilical hernia, Open mouth, Everted lower lip vermilion, Thick vermilion border, Cle... OMIM:301066
Mucopolysaccharidosis Type 7
Inguinal hernia, Umbilical hernia ORPHA:584
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Submucous cleft hard palate, Camptodactyly of finger ORPHA:178303
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Inguinal hernia, Submucou... ORPHA:2250
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure, Fatigable weakness of neck muscles ORPHA:26791
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia ORPHA:90673
Vici Syndrome
Everted upper lip vermilion, Long philtrum, Cleft upper lip, Abnormal posturing, Hypotonia, Media... OMIM:242840
Fontaine Progeroid Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Umbilical hernia, Respiratory insuffi... OMIM:612289
Meester-Loeys Syndrome
Bifid uvula, Umbilical hernia, Gingival overgrowth, Joint contracture, Camptodactyly, High palate OMIM:300989
Loeys-Dietz Syndrome 6
Bifid uvula, Broad uvula, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Cam... OMIM:619656
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Respiratory failure ORPHA:88618
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Neonatal hypotonia, Downturned corners of mouth, Submucous cleft hard palate, Thin ... OMIM:619680
Mucolipidosis Type Ii
Umbilical hernia, Gingival overgrowth, Diastasis recti, Inguinal hernia, Knee flexion contracture... ORPHA:576
Shprintzen-Goldberg Syndrome
High, narrow palate, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Aplasia/Hypoplas... ORPHA:2462
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Thin lower lip vermilion, Umbilical hernia ORPHA:221139
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Everted lower lip v... ORPHA:1519
Okur-Chung Neurodevelopmental Syndrome
Umbilical hernia, Inguinal hernia, Protruding tongue, Thin upper lip vermilion, High palate OMIM:617062
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Respiratory failure OMIM:620327
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Umbilical hernia, Thick lower lip vermilion OMIM:230740
Mitochondrial Complex I Deficiency, Nuclear Type 32
Patent urachus, Respiratory failure, Death in childhood OMIM:618252
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Spina b... ORPHA:2780
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ... ORPHA:79351
Boutonneuse Fever
Respiratory failure ORPHA:83313
22Q11.2 Deletion Syndrome
Abnormality of the dentition, Carious teeth, Atelectasis, Abnormal lung lobation, Abnormal dental... ORPHA:567
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Jejunoileal ulceration, Intestinal malrotation, Intesti... ORPHA:436252
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:457351
Geleophysic Dysplasia 3
Pneumonia, Respiratory failure, Long philtrum, Thick vermilion border OMIM:617809
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Mercury Poisoning
Interstitial pneumonitis, Respiratory failure ORPHA:330021
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Abnormal pulm... ORPHA:420741
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Hypotonia, Submucous cleft hard palat... OMIM:612863
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
Bickerstaff Brainstem Encephalitis
Pneumonia, Decreased motor nerve conduction velocity, Respiratory tract infection, EEG abnormalit... ORPHA:79138
Meier-Gorlin Syndrome 6
Umbilical hernia, Cleft palate, Thick vermilion border OMIM:616835
Okamoto Syndrome
Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Intestin... ORPHA:2729
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Trichothiodystrophy
High, narrow palate, Carious teeth, Umbilical hernia, Absence of subcutaneous fat, Multiple joint... ORPHA:33364
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:300912
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate, Infantile muscular hypotonia ORPHA:293725
Weill-Marchesani Syndrome 2
Tooth malposition, Umbilical hernia, Elbow flexion contracture, Abnormal dental morphology, High ... OMIM:608328
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death OMIM:616482
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Ablepharon Macrostomia Syndrome
Umbilical hernia, Camptodactyly of finger, Microdontia, Omphalocele, Thin vermilion border, Wide ... ORPHA:920
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Thin upper lip vermilion, Wid... OMIM:618846
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Umbilical hernia, Cleft upper lip, Stillbirth OMIM:308050
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Hajdu-Cheney Syndrome
Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Ingui... OMIM:102500
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Abnormal palate ... ORPHA:565
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Intestinal mal... OMIM:305600
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft pa... OMIM:619103
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Carious teeth, Delayed eruption of teeth, Umbilical hernia, Inguinal hernia,... OMIM:253200
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Recurrent respiratory infections, Non-midline cleft of the up... ORPHA:647
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic sei... ORPHA:395
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Respiratory insufficiency, Umbilical hernia, Narrow m... ORPHA:138
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Deep philtrum, Everted lower lip ver... OMIM:613884
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615802
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Emphysema, Intestinal malrotation, Inguinal hernia, Abnormal pulmonary... OMIM:613658
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Bifid uvula, Widely spaced teeth, Umbilical hernia, Microdontia, Smooth philtrum, Macroglossia, H... OMIM:266920
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Respiratory insufficiency, Umbilical hernia, Narrow mouth, Omphalocele, Stillb... OMIM:304120
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bilateral tonic-clonic seizure, Epileptic spasm, Generalized tonic seizure, Seizure OMIM:617193
Digeorge Syndrome
High, narrow palate, Bifid uvula, Recurrent pneumonia, Atelectasis, Umbilical hernia, Inguinal he... OMIM:188400
Stickler Syndrome, Type I
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence OMIM:108300
Hydrolethalus Syndrome 1
Abnormal lung lobation, Median cleft upper lip, Omphalocele, Stillbirth, Cleft palate OMIM:236680
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Hypotonia, Tented upper lip vermil... OMIM:608670
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:219100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Respiratory insufficiency, Cleft upper lip, Ectopic anus, Esophagea... ORPHA:93271
Hardikar Syndrome
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Bilateral clef... OMIM:301068
Microphthalmia, Syndromic 2
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Per... OMIM:300166
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Hiatus hernia, Long philtrum, Umbilical hernia OMIM:610199
Early Infantile Epileptic Encephalopathy
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:1934
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft upper lip, Orofacial cleft, Omphalocele ORPHA:3186
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Neonatal hypotonia, Long philtrum, Generalized hypotonia, Submucous cleft hard palate, Contractur... ORPHA:457279
Cardiac Diverticulum
Pulmonary artery hypoplasia, Abdominal wall defect, Umbilical hernia, Diastasis recti, Pulmonary ... ORPHA:1686
Biotinidase Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Generalized myocl... ORPHA:79241
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduce... OMIM:608594
Bloom Syndrome
Pneumonia, Bronchitis, Neoplasm of the colon, Stomach cancer, Respiratory tract infection, Esopha... ORPHA:125
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Spinal dysraphism, Submucous cleft hard palate OMIM:617660
Adnp Syndrome
Thick lower lip vermilion, Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Smooth ph... ORPHA:404448
Malignant Atrophic Papulosis
Intestinal fistula, Pleural effusion, Respiratory failure, Intestinal perforation ORPHA:679
Hunter-Macdonald Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Campt... OMIM:611962
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Everted lower lip vermilion, Anal atresia, Inguinal hernia, Thin... OMIM:601803
Leigh Syndrome
Respiratory failure, Hypsarrhythmia, Multiple joint contractures ORPHA:506
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... OMIM:300990
Mucopolysaccharidosis Type 3
Abnormality of the dentition, Umbilical hernia, Inguinal hernia, Thick vermilion border, Macroglo... ORPHA:581
Ogden Syndrome
Abnormality of the dentition, Narrow palate, Everted upper lip vermilion, Long philtrum, Umbilica... OMIM:300855
Beckwith-Wiedemann Syndrome
Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Large intest... ORPHA:116
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Long philtrum, Umbilical hernia, Agenesis of permanent teeth, Inguin... OMIM:618332
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Death in childhood, Death in infancy, Respiratory insufficiency OMIM:610505
Myhre Syndrome
Cleft lip, Respiratory insufficiency, Narrow mouth, Thin upper lip vermilion, Camptodactyly, Shor... OMIM:139210
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:620224
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduce... OMIM:269700
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia ORPHA:90674
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Anomalous pulmonary venous return, Respiratory failure requiring assisted ve... ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Posteriorly placed anus, Bilateral trilobed lung, Omphal... OMIM:306955
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Wrinkly Skin Syndrome
Carious teeth, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Inguinal hernia, Smoot... ORPHA:2834
Neu-Laxova Syndrome
Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilion, Abnormality of the philtru... ORPHA:2671
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Atypical scarring of skin, Dental malocclusion, Camptodactyly of finger, Umbilical h... ORPHA:284984
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t... OMIM:614231
Coffin-Siris Syndrome 1
Conical tooth, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intestinal ma... OMIM:135900
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia, Death in childho... OMIM:308205
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Umbilical hernia OMIM:618188
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure ORPHA:247262
Desmosterolosis
Bifid uvula, Spasticity, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Rigid... ORPHA:35107
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Anteriorly placed anus, Umbilical hernia, Inguinal hernia, Short philt... ORPHA:798
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Cloacal exstrophy, Omphalocele,... OMIM:258040
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:617798
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Spina bifida occulta,... OMIM:619227
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Exstrophy-Epispadias Complex
Anal stenosis, Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Abnormality ... ORPHA:322
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Walker-Warburg Syndrome
Bifid uvula, Hypotonia, Cleft palate, Submucous cleft hard palate ORPHA:899
Tetrasomy 9P
Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam... ORPHA:3310
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Respiratory failure, Death in infancy, Respiratory insuffi... OMIM:252010
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Generalized hypotonia, Ag... OMIM:223370
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Umbilical hernia, Agangl... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Myoclonus, Bilateral tonic-clonic seizure OMIM:620451
Glass Syndrome
Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612313
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Rectal atresia, Anal atresia, Respiratory failure OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Ileal atresia, Omphalocele, Jejunal atresia OMIM:618820
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Ventral hernia, Omphalocele, Short upper lip, Camptodactyly, Wide mouth OMIM:200110
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Generalized hypotonia, Open bite, Hypotonia, O... OMIM:115150
Thyroid Ectopia
Macroglossia, Umbilical hernia ORPHA:95712
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Acromesomelic Dysplasia 4
Umbilical hernia OMIM:619636
Alpha-Mannosidosis, Infantile Form
Macroglossia, Umbilical hernia, Widely spaced teeth ORPHA:309282
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate, Generalized hypotonia ORPHA:2282
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Umbilical hernia, Abnormal dental morphology, Gingival overgrowth, Ingui... ORPHA:217085
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Umbilical hernia, Inguinal hernia, Hiatus hernia, Joint contracture OMIM:618164
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Bifid uvula, Oral synechia, Camptodactyly o... ORPHA:2753
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Abnormal dental enamel morphology, Hypotonia, Inguinal hernia, ... ORPHA:2658
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Atypical scarring of skin, Inguinal hernia, Umbilical hernia ORPHA:536545
Nocardiosis
Cellulitis, Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure ORPHA:31204
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Umbilical hernia, Abnormal dental morphology, Gingival overgrowth, Ingui... ORPHA:217093
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Submucous cleft lip, Neonatal respiratory distress, Exaggerated median tongue furr... OMIM:312870
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Hypotonia, Inguinal hernia, Aganglion... ORPHA:2273
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Congenital diaphr... OMIM:301022
Mucopolysaccharidosis Type 2
Contractures of the large joints, Umbilical hernia, Gingival overgrowth, Flexion contracture of d... ORPHA:580
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure wit... OMIM:620024
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Molybdenum Cofactor Deficiency, Type B
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms OMIM:252160
3-Methylglutaconic Aciduria, Type Viii
Respiratory arrest, Respiratory failure, Death in infancy, Neonatal death OMIM:617248
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Widely spaced teeth, Umbilical hernia, Ankyloglossia, S... OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Peters Plus Syndrome
Intestinal fistula, Long philtrum, Cleft upper lip, Widely spaced teeth, Umbilical hernia, Inguin... ORPHA:709
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Neonatal hypotonia, Widely spaced teeth, Generalized hypoto... OMIM:300967
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Elbow flexion contracture, Hypotonia, Submucous cleft hard palate, Knee flexion contracture, Hip ... OMIM:619194
Wrinkly Skin Syndrome
Carious teeth, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Inguinal hernia, Micro... OMIM:278250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Dental crowding, Downturned corners of mouth, Delayed eruption of ... OMIM:619503
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Atypical scarring of skin, Dental crowding, Umbilical hernia, Gingival overg... ORPHA:285
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum, Flexion ... OMIM:619321
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Respiratory insufficiency... ORPHA:235
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Long philtrum, Umbilical ... OMIM:614976
Intellectual Developmental Disorder, Autosomal Dominant 54
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Atonic seizure OMIM:617799
Japanese Encephalitis
Focal motor seizure, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:79139
Meier-Gorlin Syndrome 5
Long philtrum, Submucous cleft hard palate, Thick vermilion border OMIM:613805
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:257300
Acromelic Frontonasal Dysostosis
Cleft upper lip, Midline central nervous system lipomas, Submucous cleft soft palate, Tubulonodul... OMIM:603671
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Floating-Harbor Syndrome
Carious teeth, Downturned corners of mouth, Umbilical hernia, Inguinal hernia, Microdontia, Thin ... OMIM:136140
Relapsing Polychondritis
Anteriorly placed anus, Recurrent aphthous stomatitis, Atelectasis ORPHA:728
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the dentition, Carious teeth, Periodontitis, Cigarette-paper ... ORPHA:286
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Omphalocele OMIM:130650
Viss Syndrome
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Umbilical hernia, Intestinal malro... OMIM:619472
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Umbilical hernia, Gingival overgrowth, Inguinal hern... ORPHA:93
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia OMIM:218700
Charge Syndrome
Anal stenosis, Cleft upper lip, Umbilical hernia, Tracheoesophageal fistula, Esophageal atresia, ... OMIM:214800
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic... OMIM:600001
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Umbilical hernia, Respiratory insufficiency, I... ORPHA:672
Costello Syndrome
Respiratory insufficiency, Thick lower lip vermilion, Pneumothorax, Achilles tendon contracture, ... OMIM:218040
Peters-Plus Syndrome
Cleft upper lip, Widely spaced teeth, Long philtrum, Anteriorly placed anus, Umbilical hernia, Sh... OMIM:261540
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus, Seizure ORPHA:2131
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Eosinophilic infil... OMIM:610168
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163681
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Abnormal oral mucosa morphology, Erosion of oral mucosa, Pneumothorax, Enamel hypoplas... ORPHA:79404
Classical Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Atrophic scars, Inguinal hernia, Uterine prolapse, Hiatu... ORPHA:287
Unilateral Polymicrogyria
Appendicular hypotonia, Spastic tetraplegia, Abnormal posturing, Axial hypotonia ORPHA:268943
Williams Syndrome
Carious teeth, Open bite, Death in early adulthood, Everted lower lip vermilion, Rectal prolapse,... ORPHA:904
Melas
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Seizure ORPHA:550
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Submucous cleft hard palate, Thick vermilion border, Respiratory failure, Cleft palate ORPHA:2636
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Cleft soft palate, Inguinal hernia, Supernumerary tooth, Pyloric stenosis ORPHA:268261
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Downturned corners of mouth, Emphysema, Submucous cleft soft palate, Smooth philtrum... ORPHA:500150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Long philtrum, Umbilical hernia, Thin upper lip vermilion, High palate OMIM:620330
Kinsship Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s... OMIM:619297
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Aplasia/Hypoplasia of the... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:620066
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Intestinal pseudo-obstruction, Respiratory insufficiency, Colon... ORPHA:273
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic seizure, Seizure ORPHA:255210
Zttk Syndrome
Bifid uvula, Abnormality of the dentition, Spasticity, Downturned corners of mouth, Neonatal hypo... OMIM:617140
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Umbilical hernia ORPHA:226307
Abetalipoproteinemia
Steatorrhea, Fat malabsorption, Respiratory failure ORPHA:14
Listeriosis
Pneumonia, Respiratory failure, Miscarriage ORPHA:533
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:466943
Loeys-Dietz Syndrome 3
Bifid uvula, Dental malocclusion, Umbilical hernia, Atrophic scars, Cystocele, Inguinal hernia, U... OMIM:613795
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Holoprosencephaly 13, X-Linked
Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary median maxilla... OMIM:301043
Monosomy 22Q13.3
Dental crowding, Dental malocclusion, Umbilical hernia ORPHA:48652
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s... OMIM:620455
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Cocaine Intoxication
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:618426
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Abnormal rectum morphology, Congenital diaphragmatic hernia, A... ORPHA:2556
Marden-Walker Syndrome
Bifid uvula, Camptodactyly of finger, Narrow mouth, Submucous cleft hard palate, Arthrogryposis m... ORPHA:2461
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:261515
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Pneumonia, Pleural effusion, Respiratory failure ORPHA:340
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dystonia, Hypotonia, Flexion contracture, Submucous cleft hard palate OMIM:618891
Restrictive Dermopathy 1
Natal tooth, Hydropic placenta, Narrow mouth, Short umbilical cord, Submucous cleft hard palate, ... OMIM:275210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Spontaneous pneumothorax, Recurrent pneumonia, Fat malabsorption, Res... ORPHA:731
Omodysplasia 1
Long philtrum, Umbilical hernia OMIM:258315
Cardiofaciocutaneous Syndrome
Hypotonia, High palate, Long philtrum, Submucous cleft hard palate ORPHA:1340
Campomelic Dysplasia
Neonatal respiratory distress, Carious teeth, Spinal dysraphism, Long philtrum, Contracture of th... OMIM:114290
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Joubert Syndrome 21
Respiratory failure, Pulmonary hypoplasia OMIM:615636
Ulbright-Hodes Syndrome
Narrow mouth, Pneumothorax, Long upper lip, Thin vermilion border, High palate, Respiratory failu... ORPHA:3404
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate ORPHA:124
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Tuberous Sclerosis Complex
Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Shagreen patch ORPHA:805
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Hernia, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:2255
Holoprosencephaly 2
Bifid uvula, Generalized hypotonia, Hypotonia, Median cleft palate, Submucous cleft hard palate, ... OMIM:157170
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Focal-onset seizure OMIM:301044
Williams-Beuren Syndrome
Colonic diverticula, Dental malocclusion, Long philtrum, Thick lower lip vermilion, Umbilical her... OMIM:194050
Cohen-Gibson Syndrome
Camptodactyly, Flexion contracture, Umbilical hernia OMIM:617561
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure... ORPHA:459070
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Increased subcutaneous truncal adipose tissue, Natal tooth, Downtur... ORPHA:3455
Restrictive Dermopathy
Microcolon, Natal tooth, Camptodactyly of finger, Small placenta, Large placenta, Narrow mouth, M... ORPHA:1662
Sotos Syndrome
Abnormality of the dentition, Ankle flexion contracture, Umbilical hernia, Agenesis of permanent ... ORPHA:821
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:513456
Liver Disease, Severe Congenital
Protein-losing enteropathy, Umbilical hernia, Inguinal hernia, Chronic gastritis OMIM:619991
Combined Oxidative Phosphorylation Deficiency 15
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:614947
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Hypotonia, Submucous cleft hard palate, Neoplasm of the tongue ORPHA:3047
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Townes-Brocks Syndrome 1
Anal stenosis, Umbilical hernia, Tracheoesophageal fistula, Rectoperineal fistula, Anal atresia, ... OMIM:107480
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261552
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Neonatal hypotonia, Cleft upper lip, Camptodactyly of finger, Long philtrum, Hypoton... OMIM:607872
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:612474
Coffin-Siris Syndrome 12
Velopharyngeal insufficiency, Oral motor hypotonia, Hypotonia, Submucous cleft hard palate, Celia... OMIM:619325
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure OMIM:614756
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myoclonus, Generalized ton... ORPHA:438213
Holt-Oram Syndrome
Cleft soft palate, Long philtrum OMIM:142900
Kabuki Syndrome 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure 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

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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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