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
preweaning lethality, complete penetrance Npas3tm1b(KOMP)Wtsi HOM   Early adult 0.00
unresponsive to tactile stimuli Npas3tm1b(KOMP)Wtsi HET E18.5 0.00
no spontaneous movement Npas3tm1b(KOMP)Wtsi HET E18.5 0.00
unresponsive to tactile stimuli Npas3tm1b(KOMP)Wtsi HOM E18.5 0.00
no spontaneous movement Npas3tm1b(KOMP)Wtsi HOM E18.5 0.00
increased startle reflex Npas3tm1b(KOMP)Wtsi HET Early adult 1.64×10-05

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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 2.56% (1 of 39)
axial skeleton 2.17% (1 of 46)
brain 1.05% (4 of 382)
central nervous system ganglion 1.85% (1 of 54)
cranium 2.04% (1 of 49)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
external ear 1.79% (1 of 56)
eye 0.27% (1 of 375)
femur pre-cartilage condensation 0.0%
footplate 0.26% (1 of 378)
forearm 0.0%
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
gut 2.38% (1 of 42)
handplate 0.0%
head 1.05% (4 of 381)
head mesenchyme 1.92% (1 of 52)
heart 0.0%
heart ventricle 2.17% (1 of 46)
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 1.92% (1 of 52)
intestine 2.63% (1 of 38)
liver 0.27% (1 of 377)
lower leg 0.0%
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage 0.0%
mesonephros of female 2.5% (1 of 40)
mesonephros of male 2.56% (1 of 39)
metanephros 0.0%
midbrain 0.27% (1 of 365)
nasal septum 2.27% (1 of 44)
nose 1.64% (1 of 61)
notochord 2.13% (1 of 47)
oral cavity 0.26% (1 of 379)
outflow tract 2.38% (1 of 42)
pancreas 2.56% (1 of 39)
pericardium 2.27% (1 of 44)
pharynx 0.0%
placenta 21.43% (6 of 28)
radius-ulna pre cartilage condensation 2.13% (1 of 47)
rib pre-cartilage condensation 0.0%
skeleton 1.56% (1 of 64)
skin 0.0%
spinal cord 1.75% (1 of 57)
stomach 2.44% (1 of 41)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.13% (1 of 47)
trachea 0.0%
trunk mesenchyme 0.0%
umbilical artery embryonic part 2.22% (1 of 45)
umbilical vein embryonic part 2.17% (1 of 46)
upper arm 0.43% (1 of 232)
upper leg 0.42% (1 of 238)
urinary system 2.13% (1 of 47)
vibrissa 1.82% (1 of 55)

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 Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Cholesterol Pneumonia
Cyanosis, Tachypnea, Pneumonia, Cough OMIM:215030
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615451
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Poor eye con... OMIM:618276
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Recurrent otitis media, Reduced FEV1/FVC ratio, Restrictive ventilatory defe... OMIM:611884
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis OMIM:226990
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Immunodeficiency 62
Bronchiectasis OMIM:618459
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Cyanosis, Honeycom... OMIM:610921
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Pulmonary Blastoma
Recurrent pneumonia, Cough, Pleuropulmonary blastoma, Dyspnea ORPHA:64741
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar h... OMIM:604213
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Immunodeficiency 75
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasis, Ciliary dyskinesia, R... OMIM:613807
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
Mounier-Kühn Syndrome
Pneumonia, Tracheobronchmegaly, Recurrent respiratory infections, Tracheal stenosis, Recurrent br... ORPHA:3347
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis, Dyspnea OMIM:219400
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Hyperactivity, Inability to walk, Spastic tetraplegia OMIM:616657
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Anxiety, Poor eye contact, Hypoplasia of the brainstem, Failure to thrive, Thin corpus ... OMIM:619651
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent sinusitis, Chronic pulm... OMIM:616576
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxy... ORPHA:2302
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurrent respiratory ... OMIM:618282
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Bronch... OMIM:615518
Spinocerebellar Ataxia 12
Cerebellar atrophy, Action tremor, Dysmetria, Axial dystonia, Anxiety, Head tremor, Dementia, Pro... OMIM:604326
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Microcephaly, Lissencephaly, Hypop... OMIM:611603
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Bronchiectasis, Recurrent bronchitis, Rec... OMIM:607594
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral ... ORPHA:401820
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Immunodeficiency 14A, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Cyanosis, Emphysema, Recurrent upper respiratory trac... ORPHA:95430
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Dementia, Ventriculomegaly, Ataxia, Prog... ORPHA:248111
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Respiratory insufficiency, Abnormal bronchus morphology, Atelecta... ORPHA:3348
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:608184
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower res... OMIM:619632
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Immunodeficiency 52
Recurrent pneumonia, Chronic lung disease, Bronchiectasis OMIM:617514
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent otitis media, Bronchiectasis OMIM:619220
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Alg13-Cdg
Cognitive impairment, Poor eye contact, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Inability to walk, Aggressive behavior, Microcepha... OMIM:618492
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Recurrent respiratory infections, Chronic lu... OMIM:618108
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Herpes simplex encephalitis, Bronchiectasis OMIM:618982
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Recurrent otitis media, Bronchiolitis, Respiratory distress OMIM:615993
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Recurrent bronchopulmonary... OMIM:242700
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Frontotemporal... ORPHA:412066
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Recurrent pneumonia, Pulmonary pneumatocele, Recurrent skin infections, Recurrent upper respirato... OMIM:619752
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent resp... OMIM:300853
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dystonia, Resting tremor, Intention tremor, Dilated third ventricle, Anxiety, Panic attack, Ataxi... OMIM:619725
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis OMIM:618523
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Crescentic glome... OMIM:616414
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Paresthesia, Hydrocephalus... ORPHA:73256
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Acute Lung Injury
Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Hypoxemia, Tachypnea, Respiratory fai... ORPHA:178320
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Opisthotonus, Agenesis of corpus callosum, Myelomeningocele, Anxiety... ORPHA:1136
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent respiratory i... OMIM:615207
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Hyperactivity, Recurrent hand flapping ORPHA:100973
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary ... ORPHA:3095
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Cough, Bronchiectasis, Recurrent respiratory inf... ORPHA:33110
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Gait ataxia, Hy... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis OMIM:241600
Immunodeficiency 8
Hyperactivity OMIM:615401
Pulmonary Alveolar Microlithiasis
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxy... ORPHA:60025
Immunodeficiency 58
Cold urticaria, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic bronch... OMIM:618131
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Dystonia, Abnormal substantia nigra morphology, Demen... ORPHA:98756
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Exertional dyspnea, Interlobular septal thicken... OMIM:614370
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dystonia, Dilation of lateral ventricles, Depression, Difficulty w... ORPHA:306669
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Gait disturbance ORPHA:2466
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Colpocephaly, Cerebellar hypoplasia, Impaired vibration sensation in the lower limb... ORPHA:401815
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Poor eye contact, Spasticity, Tremor OMIM:300983
Huntington Disease-Like 1
Dysmetria, Basal ganglia gliosis, Anxiety, Dementia, Aggressive behavior, Unsteady gait, Chorea, ... OMIM:603218
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusi... ORPHA:244
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Asthma, Bronchiectasis, Eczema, Recurrent sinusitis,... OMIM:243700
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Shyness, Spasticity, Babins... ORPHA:280763
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Bronchiectasis, Pulmonary fibrosis, Recurrent sinopulmonary infections,... OMIM:618394
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Huntington Disease
Dystonia, Degeneration of the striatum, Aggressive behavior, Apathy, Decreased body mass index, D... ORPHA:399
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper... ORPHA:137914
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, Micr... OMIM:608716
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Polym... ORPHA:171703
Slc35A1-Cdg
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Dystonia, Anxiety, Inappropriate behavior, Chorea, Exagge... ORPHA:309246
Joubert Syndrome 31
Cognitive impairment, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosu... OMIM:617761
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Recurrent bronchitis OMIM:312863
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Anxiety, Dementia, Athetosis, Apathy, Chorea, Basal ganglia calcification, ... OMIM:615483
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Foxg1 Syndrome
Impaired social interactions, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Ina... ORPHA:561854
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irri... OMIM:618093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia OMIM:269840
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Recurrent otitis media, Lymphadenitis, Chronic bronchitis, Bronchiectasis, R... OMIM:618986
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Cerebral cortical atrophy, Agenesis of ... ORPHA:401830
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronch... OMIM:244400
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Dif... ORPHA:199241
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, Recurrent pneumonia, Bronchiectasis OMIM:150550
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Simplified gy... OMIM:617090
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Athetosis, Ventriculomegaly,... OMIM:605013
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Failure to thrive in infancy, Ventriculomeg... ORPHA:488627
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus call... OMIM:619302
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dilated fourth ventricle, Cerebellar vermis ... ORPHA:1170
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recur... ORPHA:1572
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Choreoathetosis, Sm... OMIM:312170
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Tremor, Ventriculomegaly, Ataxia, Microcephaly, Gait d... ORPHA:391417
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Dystonia, Microcephaly, ... OMIM:252650
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Somatic sensory dysfunction, Impai... ORPHA:206448
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy,... OMIM:617669
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Chorea OMIM:618760
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Dystonia, Agenesis of corpus callosum, Cerebellar hypoplasia, Simplif... OMIM:619301
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Anxiety, Ataxia, Cerebral cortical atrophy, Depression, Difficulty walking OMIM:619425
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Dilated fourth ventricle, Small for gestational age, Cerebellar vermis atrophy, ... OMIM:619054
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia glios... ORPHA:79243
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Dystonia, Agenesis of corpus callosum, Intention tremor, Unsteady gait, Gait ataxia, N... ORPHA:453521
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Oculogyric crisis, Abnormal social behavior, Agoraphobia, Anxiety... ORPHA:255
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Cerebellar vermis hypoplasia, Anxiety, Ventriculomegaly, Abnormal cere... OMIM:300957
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Cognitive impairment, Anxiety, Olivopo... OMIM:615157
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Laryngomalacia
Abnormal tracheal morphology, Congenital laryngeal stridor, Respiratory distress OMIM:150280
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Choreoathetosis... ORPHA:2524
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Laryngotracheal stenosis, Cough, Dyspnea, Neoplasm of the lung, Upper ... ORPHA:142
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Pleural effusion, Cough, Dyspnea ORPHA:36412
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Bronchiectasis, Eczema, Psoriasifo... OMIM:616100
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Scissor gait, Diffuse cerebral atrophy, Dilation of late... ORPHA:363654
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid arthritis, Epididymitis, Bronchi... ORPHA:183675
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Retrocerebellar cyst, Inability to walk,... OMIM:614831
Cach Syndrome
Cerebral atrophy, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Dysmetr... ORPHA:135
Masa Syndrome
Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:303350
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Immunodeficiency 36
Recurrent respiratory infections, Bronchiectasis OMIM:616005
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Chitayat Syndrome
Tracheomalacia, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary inters... OMIM:617180
Neuroferritinopathy
Cognitive impairment, Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumul... ORPHA:157846
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Simplified gyral... OMIM:614019
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Immunodeficiency 104
Eczema, Pneumonia, Otitis media OMIM:608971
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infec... ORPHA:169105
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Bronchial wall thickening, Bronchiectasis OMIM:619705
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Poor eye contact ORPHA:505652
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Uveitis, Erythema nodosum, Arthritis, Ast... OMIM:614700
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Bronchiectasis OMIM:242860
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia, Ventriculomeg... OMIM:615574
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Apathy, Irritability, Chorea, Depression, Weight loss OMIM:606438
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type II lissencephal... ORPHA:300570
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Action tremor, Dysmetria, Resting tremor, Memory impairment, Intention tremor... OMIM:300623
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Decreased body weight, Agenesis of corpus callosum, Corticospinal tract hy... ORPHA:255138
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Resting tremo... ORPHA:314404
Cln5 Disease
Cerebellar atrophy, Dysmetria, Anxiety, Inability to walk, Mental deterioration, Ataxia, Aggressi... ORPHA:228360
Lamb-Shaffer Syndrome
Motor stereotypy, Abnormal social behavior, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Perching Syndrome
Respiratory distress OMIM:617055
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Memory impairment, Hyperintensity of cerebral white matter ... ORPHA:2822
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Atrophy/Degeneration affecting the brainst... ORPHA:565624
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Impaired p... ORPHA:98755
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Asthma ORPHA:634
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Lissencephaly, Pachygyria OMIM:300067
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Oculogyric crisis, Self-injurious behavior, Abnormal hippocampus morp... ORPHA:178469
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy... ORPHA:77299
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Peritonitis, Maculopa... ORPHA:228119
Immunodeficiency 64
Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618534
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections OMIM:219100
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis hypo... ORPHA:572798
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis OMIM:614069
Succinic Acidemia
Respiratory distress OMIM:600335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Broad-based gait, Tremor OMIM:619470
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Nipah Virus Disease
Infectious encephalitis, Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Selective Igm Deficiency
Hashimoto thyroiditis, Rheumatoid arthritis, Otitis media, Fasciitis, Keratitis, Recurrent pneumo... ORPHA:331235
Glycine Encephalopathy
Irritability, Impulsivity, Agenesis of corpus callosum, Aggressive behavior OMIM:605899
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbanc... ORPHA:544254
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomegaly, Partial... ORPHA:85179
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cognitive impairment, Abnormal brainstem morphology, Dilated fourth ventric... ORPHA:370022
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Agenesis of corpus callosum, Choreoathetosis, Inability ... OMIM:617988
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Dystonia, Failure to thrive, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Cutis marmorata, Bronchiectasis OMIM:301220
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Spasticity, Chorea, Motor stereotypy ORPHA:88616
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Dystonia, Dilated fourth ventricle, Inability to walk, Athetosis, Ata... ORPHA:357058
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalveolar lavage fl... OMIM:181000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Agenesis of corpus callosum, Obesity, Mental det... OMIM:604360
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Recurrent respira... ORPHA:980
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Obesity, Aggr... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Motor stereotypy, Hyperactivity, Cerebral palsy, Spasticity, Atte... ORPHA:352490
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Re... OMIM:601495
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Bloom Syndrome
Recurrent upper respiratory tract infections, Cutaneous photosensitivity, Bronchiectasis, Chronic... OMIM:210900
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Inability to walk, Microcephaly, Dandy-Walker malformation, Gait ataxia,... OMIM:618606
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Bilateral Generalized Polymicrogyria
Dystonia, Oculogyric crisis, Self-injurious behavior, Abnormal hippocampus morphology, Hypoplasti... ORPHA:208447
Joubert Syndrome 32
Large for gestational age, Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia, Polym... OMIM:617757
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly, Aggressi... ORPHA:500055
Alexander Disease
Cerebral calcification, Agenesis of corpus callosum, Self-injurious behavior, Ataxia, Gait distur... ORPHA:58
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Bron... OMIM:300755
Slc35A2-Cdg
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Failure to th... ORPHA:356961
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Pleural effu... ORPHA:3392
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Cerebellar atrophy, Action tremor, Dystonia, Anxiety, Ataxia, Aggre... OMIM:619738
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Panic att... ORPHA:420492
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Tay-Sachs Disease
Cerebellar atrophy, Dysmetria, Dystonia, Memory impairment, Anxiety, Hypointensity of cerebral wh... ORPHA:845
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Difficulty walking, Exaggerated startle response, Falls, Agoraphobia ORPHA:3198
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Poor coordination, Recurrent hand flapping OMIM:619717
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Immunodeficiency 23
Vasculitis in the skin, Asthma, Erythema, Bronchiectasis, Eczema, Recurrent respiratory infection... OMIM:615816
Congenital Tracheal Stenosis
Cyanosis, Abnormal tracheal morphology, Tracheoesophageal fistula, Abnormal bronchus morphology, ... ORPHA:141127
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Gait disturbance, Abnormality o... ORPHA:275864
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Hydrocephalus, Absent septum pellucidum, Aqueduct... ORPHA:2182
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Cough, Dyspnea, Pul... ORPHA:2038
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Dystonia, Dementia, Apathy, Chorea, Exaggerated startle response OMIM:272750
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Restrictive ventilatory defect, Pulmonary lymphangiomyomatosis, Cough, Dy... ORPHA:538
Malan Overgrowth Syndrome
Anxiety, Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Dilati... ORPHA:420179
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Hyperactivity, Unsteady gait OMIM:615516
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Akinesia, ... OMIM:225790
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Cerebellar atrophy, Ventriculomegaly, Exaggerated startle response OMIM:618367
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneu... OMIM:614742
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Memory impairment, Progressive language deterioration, Disinhibition, Fr... OMIM:607485
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Poor eye contact ORPHA:411986
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Aplasia/Hypoplasia of the cerebellar vermis, Dilation of lateral ventricles, Agenesis of corpus c... OMIM:300864