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Gene: Gnb1 MGI:95781

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Gene Summary

Name:
guanine nucleotide binding protein (G protein), beta 1
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total retina thickness Gnb1em1(IMPC)Bay HET Early adult 3.55×10-06
facial cleft Gnb1em1(IMPC)Bay HOM E18.5 0.00
increased vertical activity Gnb1em1(IMPC)Bay HET Early adult 4.43×10-07
increased bone mineral content Gnb1em1(IMPC)Bay HET   Early adult 1.66×10-05
hyperactivity Gnb1em1(IMPC)Bay HET   Early adult 6.27×10-11
abnormal retina outer nuclear layer morphology Gnb1em1(IMPC)Bay HET Early adult 9.93×10-07
decreased anxiety-related response Gnb1em1(IMPC)Bay HET   Early adult 6.76×10-05
preweaning lethality, complete penetrance Gnb1em1(IMPC)Bay HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Gnb1 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 Gnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized non-motor (ab... OMIM:616973
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Focal impaired awa... ORPHA:488613
Myelodysplastic Syndrome
OMIM:614286
Leukemia, Acute Lymphoblastic
OMIM:613065

The table below shows human diseases predicted to be associated to Gnb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dravet Syndrome
Ataxia, Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized no... OMIM:607208
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Epilepsy, Progressive Myoclonic, 6
Ataxia, Memory impairment, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus... OMIM:614018
Schizophrenia 15
Hyperactivity OMIM:613950
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... OMIM:254800
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Landau-Kleffner Syndrome
Memory impairment, Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Gener... ORPHA:98818
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Bilateral ... OMIM:617113
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Attention ... OMIM:619157
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Tonic seizure, Bilater... OMIM:616346
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc... OMIM:618141
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Ataxia, Torsion dystonia, ... ORPHA:98811
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficult... ORPHA:2590
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Bilateral cleft palate OMIM:600776
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral... ORPHA:2382
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
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
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
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Developmental Delay With Or Without Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (wit... OMIM:620540
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Supernumerary Nostril
Tessier cleft ORPHA:141096
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... OMIM:617350
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seiz... OMIM:616409
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Myoclonus, Gait ataxi... OMIM:620145
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Myoclonic Epilepsy Of Infancy
Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra... ORPHA:86909
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
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
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... OMIM:602066
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
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 Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bradykinesia, Tremor, Bilateral tonic-clonic seizure, Ataxia, Dystonia... OMIM:617836
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Dysesthesia, Paresthesia, Short at... ORPHA:1945
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Chorea, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait ataxia, Dysme... OMIM:617810
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, Bilateral tonic... OMIM:608636
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Cleft palate, Bilateral cleft palate ORPHA:1104
Myoclonic-Astatic Epilepsy
Ataxia, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Reduced social reci... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure, Torticollis OMIM:612621
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
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Lipoid Proteinosis Of Urbach And Wiethe
Memory impairment, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Infantile Convulsions And Choreoathetosis
Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impaired awareness autonomic... ORPHA:31709
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft lip, Bilateral cleft palate OMIM:601357
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Attention deficit hyperactivity disorder, Generalized non-motor (absen... ORPHA:35878
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Obesity, Seizure OMIM:613886
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Reduced soc... ORPHA:544254
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms, Myoclonus, Focal toni... ORPHA:485350
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisis, Generalized-onset seiz... ORPHA:208447
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Lafora Disease
Ataxia, Mental deterioration, Generalized myoclonic seizure, Focal impaired awareness seizure, Fo... ORPHA:501
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Opisthotonus... OMIM:619913
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Paroxysmal Kinesigenic Dyskinesia
Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Muscular Dystrophy, Congenital, With Or Without Seizures
Mental deterioration, Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-ons... OMIM:620166
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Myoclonus, Att... OMIM:617600
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Mental deterioration, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure... ORPHA:168491
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Attention def... ORPHA:467166
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Focal sensory seizure with visual features, Generalized non-motor ... OMIM:254780
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Generalized non-motor (absence) seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax... OMIM:618170
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Respiratory failure, Respiratory insufficiency OMIM:618328
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... ORPHA:411986
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Failure to thrive, Generalized non-motor (absence) seizure OMIM:616281
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Obesity, Bilateral tonic-clonic seizure, Focal ... OMIM:619854
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft palate OMIM:239800
Developmental And Epileptic Encephalopathy 28
Ataxia, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, ... OMIM:616211
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Oculomaxillofacial Dysostosis
Tessier cleft, Cleft palate ORPHA:1794
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Cleft palate OMIM:607597
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Focal-... ORPHA:395
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hsd10 Disease
Seizure, Myoclonus, Short attention span, Tremor, Gait disturbance, Ataxia, Choreoathetosis, Abno... ORPHA:391417
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Neonatal death, Respiratory insufficiency due to muscle w... OMIM:611890
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Respiratory failure, Death in infancy OMIM:225753
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Liang-Wang Syndrome
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Acrofacial Dysostosis, Weyers Type
Tessier cleft ORPHA:952
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Short attention span, Seizure, Generalized non-motor (absence) se... OMIM:300558
Frontofacionasal Dysplasia
Tessier cleft, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera... OMIM:619428
Harel-Yoon Syndrome
Inability to walk, Dystonia, Generalized non-motor (absence) seizure, Ataxia OMIM:617183
Periventricular Nodular Heterotopia 7
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Ataxia OMIM:617201
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure OMIM:618637
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Failure to thrive, Seizure, Ataxia, Dystonia, Choreoathetosis OMIM:616034
Intellectual Developmental Disorder, Autosomal Dominant 74
Diminished ability to concentrate, Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Reduced social reciprocity, Social and occupational deterioration,... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Cerebrooculonasal Syndrome
Tessier cleft ORPHA:66625
Congenital Myopathy 10A, Severe Variant
Dysphagia, Respiratory failure, Respiratory insufficiency OMIM:614399
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Satb2-Associated Syndrome Due To A Pathogenic Variant
Attention deficit hyperactivity disorder, Typical absence seizure, Seizure ORPHA:576283
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
Joubert Syndrome 15
Exencephaly OMIM:614464
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Focal impaired awareness hemiclonic seizure, Generalized non-motor (a... OMIM:620149
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... OMIM:613839
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Chorea, ... OMIM:300260
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc... ORPHA:254875
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Dysphagia, Respiratory failure OMIM:616867
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Obe... OMIM:619229
Hyperekplexia 4
Respiratory failure, Umbilical hernia OMIM:618011
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi... OMIM:618195
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft ORPHA:1647
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity OMIM:274270
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Ataxia, Dementia, Semantic dementia, Abnormal s... ORPHA:1020
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neonatal respiratory distress, Respiratory failure, Agenesis of corpus callosum ORPHA:168486
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Progressive cereb... ORPHA:248111
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness, Spina bifida occu... OMIM:618291
Immunodeficiency 95
Respiratory failure OMIM:619773
Chromosome Xp11.23-P11.22 Duplication Syndrome
Excessive shyness, Generalized non-motor (absence) seizure OMIM:300801
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Unilateral Ocular Duplication
Midline facial cleft, Cleft palate ORPHA:3374
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized non-motor (ab... OMIM:616973
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:98795
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Attention deficit hyperactivity dis... OMIM:618354
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Anorexia OMIM:619386
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Failure to thrive, Generalized non-motor (absence) seizure, Infantile spasms, Reduced soc... OMIM:300912
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Dysphagia, Respiratory failure, Amyotrophic lateral scler... OMIM:613954
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Death in childhood, Restlessness, Respiratory failure OMIM:617186
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Tay-Sachs Disease
Memory impairment, Typical absence seizure, Seizure, Laryngeal dystonia, Inability to walk, Short... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Acrofacial Dysostosis, Catania Type
Tessier cleft ORPHA:1786
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clon... ORPHA:79351
Angelman Syndrome
Ataxia, Broad-based gait, Seizure, Inability to walk, Obesity, Infantile spasms, Myoclonus, Inapp... ORPHA:72
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Early Infantile Epileptic Encephalopathy
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... ORPHA:1934
Intermediate Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171433
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
Multiple Mitochondrial Dysfunctions Syndrome 3
Polymicrogyria, Respiratory failure, Respiratory insufficiency OMIM:615330
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Opisthoto... ORPHA:95232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Large for gestational age, B... OMIM:615398
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Agenesis of corpus callosum OMIM:312170
Constricting Bands, Congenital
Tessier cleft, Cleft palate OMIM:217100
3Mc Syndrome 3
Tessier cleft, Cleft palate OMIM:248340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Dysphagia, Respiratory failure OMIM:606612
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Limb dysto... ORPHA:457351
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Mosaic Trisomy 9
Tessier cleft, Cleft palate ORPHA:99776
Dpm1-Cdg
Ataxia, Failure to thrive, Seizure, Early onset absence seizures, Generalized tonic seizure, Aton... ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Pachygyria, Respiratory failure OMIM:614922
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral... OMIM:620224
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Respiratory failure ORPHA:70472
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bila... OMIM:615802
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Isolated Arrhinia
Tessier cleft ORPHA:1134
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Respiratory failure, Hydrocephalus, Polymicrogyria OMIM:616538
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft ORPHA:268249
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula ORPHA:309246
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Respiratory failure, Dysphagia, Death in childhood OMIM:619847
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Inappropriate laughter, Generalized non-motor (absence) seizure ORPHA:363686
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Dysmetria, Attention de... OMIM:617302
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft ORPHA:1236
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Decreased body weight, Cogni... ORPHA:258
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal death OMIM:605711
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized myoclonic seizure, Failure to thrive, Generalized non-motor (absence) seizure, Inabil... ORPHA:404454
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperactivity ORPHA:363400
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Obesity, St... ORPHA:96147
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Hydrocephalus, Neonatal death OMIM:616482
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, M... OMIM:607625
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Respiratory failure OMIM:618233
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Respiratory failure, Degeneration of anterior horn ... OMIM:604320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Polymicrogyria, Death in infancy, Agene... OMIM:608836
Snakebite Envenomation
Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis ORPHA:449285
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Febrile s... OMIM:617798
Treacher-Collins Syndrome
Tessier cleft, Cleft palate ORPHA:861
Bartsocas-Papas Syndrome 1
Tessier cleft, Cleft palate OMIM:263650
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
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Seizure, Progressive psychomotor deterioration, Difficulty walking, Chorea, Sh... ORPHA:309271
Alg1-Cdg
Respiratory failure ORPHA:79327
Metachromatic Leukodystrophy, Juvenile Form
Seizure, Progressive psychomotor deterioration, Short attention span, Progressive gait ataxia, Dy... ORPHA:309263
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Diminishment of social interactions, Myoclonic seizure, Failure to thrive, Generalized non-motor ... OMIM:620455
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure, Hydrocephalus ORPHA:244
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Frontonasal Dysplasia 2
Tessier number 13 facial cleft OMIM:613451
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dysphagia, Respiratory failure, Agitation ORPHA:803
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:265120
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Congenital Myopathy 10B, Mild Variant
Dysphagia, Respiratory failure OMIM:620249
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hyperactivity, Rod-cone dystrophy, Dense calvaria OMIM:252930
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cleft palate ORPHA:306542
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Cardiorespiratory arrest, Dysphagia, Respiratory failure ORPHA:26791
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Abnormal eating behavior, Agenesis of corpus callosum, Abnormal dr... ORPHA:209905
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochok... OMIM:610217
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure OMIM:263000
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure ORPHA:98913
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hydrocephalus, Stillbirth OMIM:259720
Acute Lung Injury
Addictive alcohol use, Respiratory failure ORPHA:178320
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Severe Congenital Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171430
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Optic atrophy, Pigmentary retinopathy, Depression, Akinesia, Obsessive-compulsive tr... OMIM:234200
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Intercostal muscle weakness, Respiratory insufficiency due to musc... ORPHA:70
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Fraser Syndrome 1
Tessier cleft, Cleft palate OMIM:219000
Acromelic Frontonasal Dysostosis
Midline facial cleft, Submucous cleft soft palate, Cleft palate OMIM:603671
Joubert Syndrome 21
Dysphagia, Respiratory failure, Occipital encephalocele, Encephalocele OMIM:615636
Poliomyelitis
Anorexia, Dysphagia, Respiratory failure, Agitation, Respiratory failure requiring assisted venti... ORPHA:2912
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Holoprosencephaly 1
Tessier cleft, Median cleft palate OMIM:236100
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Obesity, Generalized tonic seizure, Bilateral tonic-clon... ORPHA:369837
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Motor stereotypy, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Respiratory failure ORPHA:36238
Mercury Poisoning
Respiratory failure, Anorexia ORPHA:330021
Pelizaeus-Merzbacher Disease, Connatal Form
Pachygyria, Respiratory failure ORPHA:280210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Obesity, Attention deficit hyperactivity disorder, Simple febrile seizur... ORPHA:466950
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:619297
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... OMIM:615512
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory failure, Dysphagia, Death in childhood, Death in infancy OMIM:620278
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Dysgyria OMIM:620327
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile se... ORPHA:513456
Boutonneuse Fever
Respiratory failure ORPHA:83313
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Histidinemia
Hyperactivity ORPHA:2157
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:610921
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Respiratory failure OMIM:617301
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Broad-based gait, Small for gestational age, Typical absence seizure, Seizure, Febrile se... ORPHA:268261
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness OMIM:220110
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Leigh Syndrome
Dysphagia, Respiratory failure, Agenesis of corpus callosum ORPHA:506
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure OMIM:620296
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Focal impaired awa... ORPHA:488613
Tuberous Sclerosis Complex
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder, Repetitive compul... ORPHA:805
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Focal myoclonic seizure, Dysmetria, Abnormal social behavior, Ataxia, Unsteady... ORPHA:314647
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Dysphagia, Respiratory failure OMIM:617248
Asbestos Intoxication
Respiratory failure ORPHA:2302
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Failure to thrive, Seizure, Obesity, Reduced social reciprocity, Attenti... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure,... OMIM:620330
Scedosporiosis
Respiratory failure ORPHA:449280
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Respiratory failure, Umbilical hernia ORPHA:254528
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure ORPHA:542323
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Mitochondrial Complex I Deficiency, Nuclear Type 32
Patent urachus, Respiratory failure, Death in childhood OMIM:618252
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Death in childhood, Death in infancy, Respiratory insufficiency OMIM:610505
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Emotional lability, Abnormal fear-induced behavior OMIM:219090
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Failure to thrive, Obesity, Short attention span, Atonic seizure, Focal-... OMIM:617157
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Typical absence seizure, Impaired pain sensation, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Typical absence seizure, Impaired pain sensation, Seizure ORPHA:352665
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft ORPHA:93271
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Lateral ventricle dilatation, Death in infancy OMIM:300868
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Chronic Visceral Acid Sphingomyelinase Deficiency
Attention deficit hyperactivity disorder, Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Tremor, Truncal obesity, Bil... OMIM:612474
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Umbilical hernia, Hydrocephalus, Spina bifida, Stillbirth, Respiratory... OMIM:304120
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:252010
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Hydrocephalus, Agenesis of corpus callosum ORPHA:2556
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Large placenta, Respiratory failure, Lissencephaly, Miscarriage ORPHA:96334
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Respiratory failure ORPHA:647
Glycogen Storage Disease Due To Acid Maltase Deficiency
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respiratory ins... ORPHA:365
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory failure, Respiratory insufficiency OMIM:610913
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Congenital Fiber-Type Disproportion Myopathy
Respiratory failure, Dysphagia, Intercostal muscle weakness, Respiratory insufficiency due to mus... ORPHA:2020
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Respiratory insufficiency, Obsessive-compulsive trait, Aggressive beha... ORPHA:273
Costello Syndrome
Respiratory failure, Hydrocephalus, Respiratory insufficiency OMIM:218040
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Riddle Syndrome
Neonatal asphyxia, Respiratory failure ORPHA:420741
Niemann-Pick Disease Type C
Respiratory insufficiency, Disinhibition, Aggressive behavior, Compulsive behaviors, Dysphagia, R... ORPHA:646
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:2636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Polymicrogyria, Dysplastic corpus callosum, Dysphagia, Respiratory ... ORPHA:500150
Abetalipoproteinemia
Respiratory failure ORPHA:14
Listeriosis
Respiratory failure, Miscarriage ORPHA:533
Bloom Syndrome
Respiratory failure ORPHA:125
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hemorrhagic Fever-Renal Syndrome
Respiratory failure, Agitation ORPHA:340
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Bickerstaff Brainstem Encephalitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:79138
Carpenter Syndrome 2
Obesity, Generalized non-motor (absence) seizure OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Retinopathy, Emotional lability, Aggress... ORPHA:353281
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Attentio... ORPHA:821
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Respiratory insufficiency OMIM:613658
Pulmonary Alveolar Microlithiasis
Respiratory failure, Respiratory insufficiency ORPHA:60025
Fraser Syndrome 2
Respiratory failure OMIM:617666
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Nocardiosis