Gene Summary

Name:
heat shock protein 5
Synonyms:
Hsce70,  Bip,  Grp78,  Sez7,  D2Wsu141e,  D2Wsu17e,  78kDa,  mBiP,  XAP-1 antigen,  baffled

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
embryonic lethality prior to tooth bud stage Hspa5tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased circulating cholesterol level Hspa5tm1.1(KOMP)Vlcg HET Early adult 6.50×10-06
decreased circulating chloride level Hspa5tm1.1(KOMP)Vlcg HET Early adult 6.22×10-06
embryonic lethality prior to organogenesis Hspa5tm1.1(KOMP)Vlcg HOM   E9.5 0.00
increased circulating HDL cholesterol level Hspa5tm1.1(KOMP)Vlcg HET Early adult 7.96×10-07
increased heart weight Hspa5tm1.1(KOMP)Vlcg HET   Early adult 3.77×10-07
preweaning lethality, complete penetrance Hspa5tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote Ambiguous
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Forepaw

13 Images

Adult LacZ

LacZ Images Section

24 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Sleep Wake

Wake state (bmp file)

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography

Rod waveform (pdf format)

2 Images

Electroretinography

Cone waveform (pdf format)

2 Images

Human diseases caused by Hspa5 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 Hspa5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Hepatojugular reflux, Late in... ORPHA:2302
Glycogen Storage Disease Vi
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary insufficiency, Pulmonary arterial hypertension, Abnorma... ORPHA:70588
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Respiratory failure, Pulmonary ... ORPHA:70587
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Rowley-Rosenberg Syndrome
Hypertension, Atelectasis, Recurrent pneumonia, Pulmonary arterial hypertension, Reduced subcutan... OMIM:268500
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Respiratory insufficiency, Cereb... OMIM:616081
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplas... ORPHA:168486
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... ORPHA:171703
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Cerebellar hypoplasia, Loss of Purkinje cells in the cerebellar vermis, Respira... OMIM:225753
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Respiratory insufficiency due to muscle... OMIM:618291
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopla... OMIM:611603
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Cerebellar atrophy, Respiratory failure, Micr... OMIM:610127
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Respiratory insufficiency due to muscle... OMIM:611890
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum OMIM:618276
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis OMIM:176860
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplen... OMIM:612526
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Respiratory fai... OMIM:600333
Ethanolaminosis
Cardiomegaly OMIM:227150
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Pallor ORPHA:228312
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Joubert Syndrome 23
Tachypnea, Dysplastic corpus callosum, Apnea, Cerebellar dysplasia OMIM:616490
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Short nose, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Congestive heart failure, Respiratory failure, Intrauterine growt... OMIM:301021
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebellar v... ORPHA:370968
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:613090
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Pulmonary Fibrosis, Idiopathic
Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Elevated broncho... OMIM:178500
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Elevat... OMIM:616828
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Respiratory in... OMIM:607596
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis, Atelectasis, Right bundle branch block ORPHA:254361
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Pallor ORPHA:517
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Evans Syndrome
Dyspnea, Syncope, Epistaxis, Jaundice, Petechiae, Bruising susceptibility, Pallor ORPHA:1959
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Dermatitis, Atopic
Allergic rhinitis, Facial erythema, Asthma, Pallor, Dry skin OMIM:603165
Gaucher Disease Type 2
Respiratory distress, Cough, Cardiac arrest, Abnormal pattern of respiration, Recurrent respirato... ORPHA:77260
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Abnormal bleeding, Palpitations, Dyspnea, Ischemic stroke, Hemothorax, Coug... ORPHA:2038
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Respirato... OMIM:619057
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respiratory failure... OMIM:617248
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria OMIM:602522
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of cor... OMIM:619302
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia... ORPHA:238459
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Hydrocephalus, D... OMIM:300864
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Partial agenes... ORPHA:85179
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypopla... OMIM:619003
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Retinitis Pigmentosa 60
Pallor OMIM:613983
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Abnormal onset of bleeding, Myocardial infarction, Cerebral ischemia ORPHA:3325
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Pleural effusion, Subconjunctiv... ORPHA:340
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Succinic Acidemia
Respiratory distress OMIM:600335
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Cough, Atelectasis, Wide nasal bridge, Skin vesicle, Recurrent r... ORPHA:2314
Microcephaly 17, Primary, Autosomal Recessive
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Microlissencephaly, Agenesis of co... OMIM:617090
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Letterer-Siwe Disease
Jaundice, Pulmonary infiltrates, Dyspnea, Pallor OMIM:246400
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... OMIM:245400
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Decreased pulmonary function, Atrial flutter, Tricuspid regurgitation, Pulmon... ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria,... OMIM:616538
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Irregula... ORPHA:90060
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Simplified gyral p... OMIM:618492
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... ORPHA:45452
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Li... OMIM:218670
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Gaba-Transaminase Deficiency
Death in childhood, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum OMIM:252650
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Pontocerebellar Hypoplasia Type 2
Apnea, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebell... ORPHA:2524
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Eleva... ORPHA:1329
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal deat... OMIM:245650
Optic Atrophy 9
Pallor OMIM:616289
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... OMIM:614833
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Laryngotracheal stenosis, Cough, Upper airway obstruction, Neoplas... ORPHA:142
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Dyspnea, Bundle branch block, Suprav... ORPHA:99104
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor, Abnormal pattern of respiration ORPHA:29822
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callosum, H... OMIM:619301
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Hypoxemia, Tachycardia, Cyanosis, Syncope ORPHA:464453
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress OMIM:618006
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Buerger Disease
Acrocyanosis, Vasculitis, Skin ulcer ORPHA:36258
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:616900
Rheumatic Fever
Arrhythmia, Pericarditis, Abnormal pleura morphology, Myocarditis, Epistaxis, Respiratory insuffi... ORPHA:3099
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Abnormal lower motor neuron morphology, Resp... ORPHA:2590
Bowen Syndrome Of Multiple Malformations
Death in childhood, Agenesis of corpus callosum OMIM:211200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory distress, Hypertension OMIM:616733
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale... OMIM:601678
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Respiratory distress, Cardiomyopathy ORPHA:26792
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Gastrointestinal hemorrhage, Emphysema, Cough, Atelectas... ORPHA:538
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Bruising susceptibility, R... ORPHA:3226
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Abnormal tracheobronchial m... ORPHA:1163
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Short nose, Respiratory distress OMIM:615042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Nasal polyposis, Cough, Myocarditis, Recurrent... ORPHA:183
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Monosodium Glutamate Sensitivity
Dyspnea, Palpitations, Flushing OMIM:231630
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Vasculitis, Pulmonary infiltrates ORPHA:375
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, ... ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Cerebellar atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor, Respiratory insufficiency due to muscle weakness OMIM:608423
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Death in infancy, Respiratory failure, Leukoencephalopathy, Cerebral edema OMIM:617186
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia, Exertional dyspnea ORPHA:90037
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Aortic regurgitation, Redundant skin, Emphysema, Progeroid facial ap... OMIM:123700
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatomegaly, H... ORPHA:79237
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy OMIM:618233
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Cerebellar atrophy, Respiratory failur... ORPHA:352447
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Hydrocephalus OMIM:276950
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Dyspnea, Recurrent respiratory infections OMIM:607616
Autoimmune Hemolytic Anemia, Warm Type
Exertional dyspnea, Jaundice, Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hypoplasia of the corpus callosum, Cerebral atrophy, Respiratory failure, Abnormal periventricula... OMIM:615838
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia, Ventricular septal defect OMIM:616730
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Autoimmune Hemolytic Anemia
Arrhythmia, Dyspnea, Congestive heart failure, Pallor ORPHA:98375
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Arnold-Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale... OMIM:241200
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Inspiratory stridor, Arnold-Chiari malforma... OMIM:207950
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hypokalemia, Hypochloremia, ... ORPHA:89938
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, N... ORPHA:333
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pulmonary fibrosis, Coug... OMIM:614742
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Tetrasomy 5P
Short nose, Respiratory distress, Wide nasal bridge, Redundant neck skin, Pulmonary hypoplasia, H... ORPHA:3309
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Respiratory insufficiency due to mus... OMIM:615249
Leigh Syndrome
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... OMIM:256000
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Optic Atrophy 1
Pallor OMIM:165500
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Hypoplasia of the corpus callosum, Abnormality... ORPHA:89844
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Res... ORPHA:444013
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Epistaxis, Respiratory insufficiency, Con... ORPHA:33226
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Coach Syndrome 2
Apneic episodes in infancy, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Polymicrogyria, Respiratory failure, Death in infancy OMIM:610678
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Depressed nasal bridge, Bradycardia, Dry skin ORPHA:226313
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Dyspnea, Left posterior fascicular block, Sudden c... OMIM:113900
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Corticospinal tract hypopla... ORPHA:255138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Cerebellar cyst, Hypoplasia o... ORPHA:79243
Retinitis Pigmentosa 70
Pallor OMIM:615922
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasi... OMIM:615287
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
American Trypanosomiasis
Arrhythmia, Dyspnea, Cough, Congestive heart failure, Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Myoclonus, Intractable, Neonatal
Apnea, Pallor OMIM:617235
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Hypoxemia,... ORPHA:555874
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Agenesis of corpus callosum,... OMIM:225790
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Malaria
Respiratory distress ORPHA:673
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Hypoventilation, Arrhythmia, Respiratory insufficiency, Atelectasis, I... ORPHA:258
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration,... OMIM:210250
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short nose, Depressed nasal bridge ORPHA:166272
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Cereb... OMIM:616212
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Sepsis In Premature Infants
Abnormal bleeding, Abnormal mucociliary clearance, Dyspnea, Purpura, Hypotension, Decreased pulmo... ORPHA:90051
Beta-Thalassemia
Pallor, Skin ulcer, Respiratory insufficiency, Hypertrophic cardiomyopathy ORPHA:848
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Cerebral cortical atrophy, Respirato... ORPHA:1194
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Intracerebral periventricular calcifications, R... OMIM:608836
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Exertional dyspnea ORPHA:90036
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HD... OMIM:278000
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morphology OMIM:182290
Glutamine Deficiency, Congenital
Apnea, Short nose, Wide nasal bridge, Erythema, Neonatal respiratory distress, Neonatal death, Br... OMIM:610015
Retinitis Pigmentosa 27
Pallor OMIM:613750
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Hypercholesterolemia, Bicuspid aortic valve ORPHA:401923
Immunodeficiency 54
Adrenocorticotropic hormone excess, Microcephaly, Respiratory failure, Respiratory insufficiency OMIM:609981
Primary Effusion Lymphoma
Pleural effusion, Dyspnea ORPHA:48686
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Death in infancy, Microcephaly, Agenesis of corpus ca... ORPHA:99742
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure, Cerebellar gliosis, Cerebellar atrophy OMIM:616505
Pulmonary Hypertension, Primary, 1
Dyspnea, Right ventricular failure, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial... OMIM:178600
Relapsing Polychondritis
Dyspnea, Pericarditis, Purpura, Large vessel vasculitis, Cough, Erythema, Atelectasis, Laryngomal... ORPHA:728
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Familial Focal Epilepsy With Variable Foci
Flushing, Pallor ORPHA:98820
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Respiratory distress OMIM:615597
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Respiratory failure, Microcephaly, Hydrocephalus OMIM:259720
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Laron Syndrome
Hypercholesterolemia ORPHA:633
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Abnormal pleu... ORPHA:210136
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736