Gene Summary

Name:
neuronal PAS domain protein 3
Synonyms:
bHLHe12,  4930423H22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
unresponsive to tactile stimuli Npas3tm1b(KOMP)Wtsi HET E18.5 0.00
increased startle reflex Npas3tm1b(KOMP)Wtsi HET Early adult 9.66×10-05
no spontaneous movement Npas3tm1b(KOMP)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Npas3tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Npas3tm1b(KOMP)Wtsi HOM   Early adult 0.00
no spontaneous movement Npas3tm1b(KOMP)Wtsi HET E18.5 0.00

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Heart atrium N/A homozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Axial skeleton N/A homozygote Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Central nervous system ganglion N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Outer ear N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forearm N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Gut N/A heterozygote Ambiguous
Gut N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote Ambiguous
Head mesenchyme N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart ventricle N/A heterozygote Ambiguous
Heart ventricle N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A homozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Inner ear N/A homozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Intestine N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lower leg N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Meckel's cartilage N/A heterozygote Ambiguous
Meckel's cartilage N/A homozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
Mesonephros of female N/A homozygote Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
Mesonephros of male N/A homozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Metanephros N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Nasal septum N/A heterozygote Ambiguous
Nasal septum N/A homozygote Ambiguous
Nose N/A heterozygote Ambiguous
Nose N/A homozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Notochord N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Outflow tract N/A heterozygote Ambiguous
Outflow tract N/A homozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
Pancreas N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Pharynx N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Chorioallantoic placenta N/A homozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A homozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skeleton N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Spinal cord N/A homozygote Ambiguous
Stomach N/A heterozygote Ambiguous
Stomach N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A homozygote Ambiguous
Tongue N/A heterozygote Ambiguous
Tongue N/A homozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trachea N/A homozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Trunk mesenchyme N/A homozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A homozygote Ambiguous
Umbilical vein embryonic part N/A heterozygote Ambiguous
Umbilical vein embryonic part N/A homozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper arm N/A homozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Upper leg N/A homozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Urinary system N/A homozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous
Vibrissa N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

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

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Npas3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Npas3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Alpha-1-Antitrypsin Deficiency
Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H... ORPHA:79127
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Livedo, Telangiectases of the cheeks, Recurrent low... OMIM:615139
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive, Inability to walk, Dysplastic corp... OMIM:618276
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Erythema nodosum, Dyspnea, Abnormal pulmona... OMIM:612387
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Depression, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, P... OMIM:615889
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... OMIM:615504
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebe... OMIM:604213
Schizophrenia 15
Hyperactivity OMIM:613950
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Facial erythema,... OMIM:620321
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matte... ORPHA:500166
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal bronchus morphology, Bronchiectasis ORPHA:1164
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk OMIM:617820
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... ORPHA:70587
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... ORPHA:3347
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media OMIM:300455
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivi... ORPHA:599373
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis OMIM:617638
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Central Neurocytoma
Pain insensitivity, Depression, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calc... ORPHA:73256
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Tracheal stenosi... ORPHA:3348
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation, Difficulty walking, Tremor, Cerebral cortical hemiatrop... ORPHA:306669
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Juvenile Huntington Disease
Ventriculomegaly, Broad-based gait, Cerebellar atrophy, Depression, Neuronal loss in basal gangli... ORPHA:248111
Yellow Nail Syndrome
Generalized abnormality of skin, Rhinitis, Sinusitis, Dyspnea, Recurrent respiratory infections, ... ORPHA:662
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectasis, A... ORPHA:60032
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Difficulty walking, Agenesis of corpus callosum, Limb tremor, Spastic ... ORPHA:401820
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:614017
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media OMIM:617092
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Cerebellar atrophy, Lateral ventri... ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Otitis media, Sinusitis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Severe Acute Respiratory Syndrome
Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia ORPHA:140896
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:619220
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:608184
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot... OMIM:612650
Panbronchiolitis, Diffuse
Hypoxemia, Bronchiectasis OMIM:604809
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Hypo... OMIM:611603
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:613808
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Memory impairment, Inappropriate behavior, Lateral ventricle dilatation, Cer... OMIM:221770
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Loss of ambulation, Abnormal cerebral whit... OMIM:620315
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... OMIM:600795
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Bronchiectasis, Herpes simplex encephalitis OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent respiratory infectio... OMIM:300853
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency 62
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity, Delayed early-childho... OMIM:618090
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysph... ORPHA:2524
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Jaundice, Panniculitis, Bronchiectasis ORPHA:60
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Ventriculomegaly, Temporal cortical atrophy, Retrocerebellar cyst, Reduced social recipro... ORPHA:137831
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis OMIM:620282
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc... OMIM:618523
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Conjuncti... OMIM:240500
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... ORPHA:275864
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus cal... ORPHA:401815
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... ORPHA:1163
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia ORPHA:264675
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight ORPHA:324422
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis, Recurrent upper ... ORPHA:397596
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Failure to thrive, Hypoplasia of the brainstem, Hypoplasia of the corpus callos... OMIM:617090
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventri... OMIM:607596
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis ORPHA:477814
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasi... ORPHA:488635
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infec... OMIM:242700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Gastritis, Perianal abscess, Recurrent respirator... OMIM:618108
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the brainstem, Inability to walk, Absent septum pellucidum, Hypop... OMIM:618492
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corp... OMIM:610031
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... OMIM:619752
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Masa Syndrome
Ventriculomegaly, Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:615444
Choanal Atresia
Tracheomalacia, Respiratory distress, Cyanosis, Chronic sinusitis, Recurrent respiratory infections ORPHA:137914
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Dystonia, Hydroc... OMIM:619302
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... OMIM:618286
Hsd10 Disease
Ventriculomegaly, Frontotemporal cerebral atrophy, Short attention span, Tremor, Focal white matt... ORPHA:391417
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility, Bronchiectasis, Osteoarthritis OMIM:620080
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... OMIM:615207
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Arthritis, Dyspnea, ... OMIM:616414
Foxg1 Syndrome
Abnormal corpus callosum morphology, Difficulty walking, Inability to walk, Bruxism, Reduced soci... ORPHA:561854
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... ORPHA:171703
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Hypoxemia, Respi... ORPHA:79128
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Hypophosphatasia
Emphysema ORPHA:436
Cdkl5-Deficiency Disorder
Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance ORPHA:505652
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Abnormal tracheal morphology, Apnea, Cyanosis, Tachypnea, P... ORPHA:2257
Laryngotracheoesophageal Cleft
Dyspnea, Recurrent respiratory infections, Cyanosis ORPHA:2004
Autosomal Agammaglobulinemia
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, ... ORPHA:33110
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibro... OMIM:618394
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Failure to thrive, Cerebral atrophy, Periv... ORPHA:255182
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcephaly, Short ... OMIM:617854
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia ORPHA:70588
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Dysgenesis of the basal ganglia, Hypoplasia of th... ORPHA:171680
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Hypoplasia of the pons, Difficulty walking, Inability ... OMIM:617695
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Chronic oral candidiasis OMIM:150550
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Pleural effusion... OMIM:620233
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Immunodeficiency 52
Recurrent pneumonia, Bronchiectasis OMIM:617514
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, To... OMIM:619054
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Abnormal periventricular white matter morphology... OMIM:619725
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Agenesis of ... ORPHA:401830
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor,... OMIM:213200
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Bronchomalacia, Abnormal pulmonary interstitial morphology,... OMIM:617180
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Immunodeficiency 102
Recurrent upper respiratory tract infections, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... OMIM:301082
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis atrophy, Li... ORPHA:135
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Resting tremor, Lateral ventricle dilatation, Diffuse cerebral atrophy, ... ORPHA:363654
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Progressive neurologic deterioratio... OMIM:252650
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Delayed early-childhood social milestone development OMIM:618147
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Unst... ORPHA:453521
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Inappropriate behavior, Abnormal fear-induced beha... ORPHA:309246
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Gait ataxia, Agenesis of corpus callosum OMIM:616540
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:618986
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Immunodeficiency 32B
Pneumonia, Recurrent respiratory infections, Bronchiectasis, Sinusitis OMIM:226990
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia ORPHA:747
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Primary Ciliary Dyskinesia
Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract infection, Chron... ORPHA:244
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypoplasia of the corp... OMIM:616034
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... ORPHA:36238
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Dysmetria, Agenesis of corpus callosum, Irritability, Head titubation, Ataxia,... OMIM:250620
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Masa Syndrome
Shuffling gait, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus OMIM:303350
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ... ORPHA:436159
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Inability to walk, Cerebellar malformation, Dilated fourth ventricl... ORPHA:357058
Atelis Syndrome 1
Eczematoid dermatitis, Glue ear, Bronchiectasis OMIM:620184
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi... OMIM:616100
Common Variable Immunodeficiency
Pneumonia, Chronic otitis media, Emphysema, Recurrent bronchitis, Otitis media, Recurrent respira... ORPHA:1572
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Progressive psychomotor deterioration, Cerebellar vermis atrophy, Dilated fou... ORPHA:1170
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Fa... ORPHA:488627
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... OMIM:618917
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Hypoplasia of the pons, Short ... ORPHA:280195
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Reduced cerebral white m... OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Failure to thrive, Inability to walk, Chorea, Short attention span, Hy... OMIM:617864
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morphology, Emotional... ORPHA:300570
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Microcephaly, Deliri... ORPHA:208441
Glycine Encephalopathy 1
Irritability, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impu... OMIM:605899
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... ORPHA:255138
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Bronchiectasis, Chronic bronchitis, Sinusitis OMIM:242860
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Dilated third ventricle, Cerebellar atrophy, Resting tremor, Depression, Ce... ORPHA:314404
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Motor stereotypy, Excessive shyness, Waddling gait ORPHA:280763
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis, Lung abscess OMIM:241600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Bronchial wall thickening, Crohn's disease OMIM:619705
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Mental deterioration, Memory impairment, Lateral... ORPHA:2822
Laryngomalacia
Respiratory distress, Abnormal tracheal morphology OMIM:150280
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Microcephaly, Hea... OMIM:620208
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Good Syndrome
Sinusitis, Dyspnea, Recurrent respiratory infections, Recurrent skin infections, Bronchiectasis ORPHA:169105
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis OMIM:615434
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Mental deterioration, Tip-toe gait, Impaired vibration sensation in th... OMIM:604360
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert... OMIM:610978
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Pneumonia, Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ... ORPHA:183675
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Microhydranencephaly
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Self-mutilation, Agenesis of corp... OMIM:605013
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Respiratory distress, Tracheoesophageal fistula, Dyspnea, Neoplasm of t... ORPHA:142
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... OMIM:613443
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Leukodystrophy, Hypomyelinating, 13
Ataxia, Failure to thrive, Secondary microcephaly, Abnormal periventricular white matter morpholo... OMIM:616881
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... OMIM:614104
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Limb... OMIM:615157
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Microcephaly, ... ORPHA:77299
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Cerebellar atrophy, Chorea, Action tremor, Tremor, Reduced social reciprocity, Aggres... OMIM:619738
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Pleural effusion, Dyspnea, Hyper... ORPHA:2902
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal tracheobr... ORPHA:133
L1 Syndrome
Aqueductal stenosis, Gait disturbance, Hydrocephalus, Depression ORPHA:275543
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Bruxism, Inappropriate laughter, Gait ataxia, Reduced so... ORPHA:3095
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Failure to thrive, Secondary microcephaly... OMIM:620352
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Memory impairment, Secondary microcephaly, Obesity, Periventricular... OMIM:619737
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Recurren... OMIM:614700
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Childhood Disintegrative Disorder
Motor stereotypy, Reduced social reciprocity ORPHA:168782
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Small for gestational age, Cerebral atrophy, Episodic ataxia, Tremor, Agenesis ... OMIM:312170
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Recurrent lower respiratory tract infections, Cheilitis... OMIM:615468
Immunodeficiency 64 With Lymphoproliferation
Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618534
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Decreased response to growth hormone stimulation test ORPHA:502430
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Tay-Sachs Disease
Ventriculomegaly, Depression, Cerebellar atrophy, Memory impairment, Laryngeal dystonia, Inabilit... ORPHA:845
Nipah Virus Disease
Respiratory distress, Infectious encephalitis, Recurrent pharyngitis ORPHA:99825
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Eczematoid dermatitis, Stillbirth OMIM:619751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Pettigrew Syndrome
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcificat... OMIM:304340
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Combined Immunodeficiency, X-Linked
Pneumonia, Sinusitis, Recurrent bronchitis, Otitis media OMIM:312863
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... OMIM:617542
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Cutaneous abscess, ... ORPHA:331235
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Failure to thrive, Periventricular leukomalacia, Irrit... OMIM:619833
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Tip-toe gait, Cerebral atrophy... ORPHA:565624
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Bronchiectasis, Cutis marmorata OMIM:301220
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Inability to walk, Bruxism, Inappropriate laughter, Stereotypical hand w... OMIM:614254
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Tularemia
Pneumonia, Cutaneous abscess, Respiratory distress, Pleural effusion, Otitis media, Skin rash, Er... ORPHA:3392
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy OMIM:617393
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea ORPHA:2357
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Abnormal medulla oblongata mor... ORPHA:206448
Pontocerebellar Hypoplasia, Type 13