Gene Summary

Name:
nuclear export mediator factor
Synonyms:
1500011I12Rik,  Sdccag1,  4933405E14Rik

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
increased heart weight Nemftm1b(EUCOMM)Hmgu HET   Early adult 7.29×10-06
decreased circulating cholesterol level Nemftm1b(EUCOMM)Hmgu HET Early adult 1.05×10-06
decreased circulating glucose level Nemftm1b(EUCOMM)Hmgu HET   Early adult 9.90×10-07
preweaning lethality, complete penetrance Nemftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal tail morphology Nemftm1b(EUCOMM)Hmgu HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thalamus 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% (1 of 1)
Embryo N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head 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 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
axial skeleton Ambiguous
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

8 Images

Adult LacZ

LacZ Images Section

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Sleep Wake

Wake state (bmp file)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

2 Images

Electroretinography

Cone waveform (pdf format)

1 Images

Electroretinography

Rod waveform (pdf format)

1 Images

Human diseases caused by Nemf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nemf by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Respiratory distress OMIM:619099

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Axonal degeneration, Distal amyotrophy, Foot dorsiflexor weakness, D... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, P... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Hypertro... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Upper limb muscle weakness, Gait disturbance, Foot dorsiflexo... OMIM:616155
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Peripheral axonal neu... OMIM:620011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Decreased compound muscle action potential amplitude, Axonal degeneration, Di... OMIM:602433
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Distal amyotrophy, Failure to thrive, Hand muscle atrophy, Foot dorsi... OMIM:618811
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Difficulty walking... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Axonal degeneration, Broad-based gait, Peripheral axonal neuropathy, Intrinsic... OMIM:615490
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Axonal degenerati... OMIM:601596
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Gait disturbance, Proximal amyotrophy, Decreased number of peripheral myelin... OMIM:604484
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Spinal muscular atro... OMIM:604320
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Short stature, Brachial plexus neuropathy, Skeletal muscle atrophy, Peripher... OMIM:162100
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:610951
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Acute rhabdomyolysis, Peripheral hypomyelination, Axonal degeneration, Short st... OMIM:604168
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Axonal degeneration, Truncal ataxia, Distal amyotrophy, Cerebellar atrophy, Gait ata... OMIM:208920
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Lower ... OMIM:614373
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Gait... OMIM:608030
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Respiratory distress OMIM:619099
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Cerebellar atrophy, Gait ataxia, Short stature, Absent pubertal ... ORPHA:438134
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Decreased body weight, Facial palsy, Type 1 fibe... OMIM:300580
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Myopathy And Diabetes Mellitus
Respiratory distress, Peripheral axonal neuropathy, Weakness of orbicularis oculi muscle, Skeleta... ORPHA:2596
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Distal amyotrophy, Gait disturbance, Motor axonal neuropathy, Neurodegeneration OMIM:615643
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Decreased body weight, Cerebellar atrophy, Cerebral cortical... OMIM:617672
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Increased variability in muscle fiber diameter, Skeletal muscle atroph... ORPHA:238329
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Camptodactyly, Gait... ORPHA:88628
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Respiratory distress ORPHA:141152
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Muscle fiber necrosis, Spinal muscular a... OMIM:271150
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Failure ... OMIM:614399
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Respira... ORPHA:1145
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Hyperammonemia, Increased C-peptide level,... OMIM:620211
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokines... OMIM:612319
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Dyspnea, Triceps weakness, Lim... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy OMIM:616811
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn... ORPHA:101097
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Failure to thrive, Flexion contracture, Respiratory distress OMIM:618201
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Myopathy, Respiratory distress ORPHA:26792
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Caudate atrophy OMIM:617892
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Spinal muscular atrophy, type I, with congenital bone fractures
Acute infantile spinal muscular atrophy, Respiratory distress, Generalized amyotrophy, Decreased ... OMIM:271225
Stt3B-Cdg
Optic atrophy, Failure to thrive, Cerebellar atrophy, Respiratory distress ORPHA:370924
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Myopathy, Respiratory distress ORPHA:91130
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Ketotic hypoglycemia, Pulmonic stenosis, Elevated ... ORPHA:79159
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Cerebellar atrophy, Respiratory distress OMIM:615597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Perching Syndrome
Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly, Cardiomyopathy ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Limb ataxia, Dysdiadochokinesis, Cerebellar atrophy, Gait apraxia, Gait ataxia,... OMIM:615157
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Respiratory distress OMIM:613642
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Dyspnea, Uppe... ORPHA:803
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Optic atrophy, Global brain atrophy, Scissor gait, Axonal degeneration, Severe ... OMIM:278800
Adrenomyeloneuropathy
Spastic gait, Distal lower limb muscle weakness, Axonal degeneration, Abnormality of peripheral n... ORPHA:139399
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Upper limb muscle wea... ORPHA:1143
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Akinesia, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Neu... OMIM:300894
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Failure to thrive, Diffuse cerebral atrophy, ... OMIM:245200
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Small for gestational ag... OMIM:616733
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cerebellar atrophy, Short stature, Joint contracture, Absent pub... OMIM:615919
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cor... OMIM:619272
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of facial muscul... ORPHA:254875
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Failure to thrive, Generalized amyotrophy, Respiratory distress OMIM:613561
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Succinic Acidemia
Respiratory distress OMIM:600335
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine k... OMIM:618838
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Camptodactyly, Respiratory distress OMIM:619751
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hypog... OMIM:615160
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Distal amyotrophy, Proximal amyotrophy, Loss of ambulati... OMIM:608627
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Respiratory distress, Cerebellar atrophy, Apnea ORPHA:79097
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resis... OMIM:612526
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress OMIM:615993
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Scapular winging, Cerebellar atrophy, Gait disturbance, Ataxia,... OMIM:614298
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Muscular dystrophy, Pontocerebellar atrophy, Ankle flexion contracture, Respirator... OMIM:608799
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Respiratory distress ORPHA:77260
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Dyspnea, Right ventricular hypertrophy, Small for gestationa... ORPHA:70589
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress OMIM:245590
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Respiratory distress, Brain atrophy, Neuronal loss in central nervous system, C... OMIM:604377
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive, Respiratory distress OMIM:616974
Pleural Mesothelioma
Dyspnea, Weight loss, Respiratory distress ORPHA:50251
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, Failure to thrive, D... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Cerebellar atro... OMIM:616239
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Flexion contracture, Loss of ambulat... OMIM:615491
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Respiratory distress OMIM:617977
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Postnatal growth retardation, Neurodegeneration OMIM:620210
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Failure to thrive, Tachypnea, Hyperventilation ORPHA:91359
Immunodeficiency 95
Respiratory distress OMIM:619773
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia ORPHA:6
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tachypnea, Respiratory distress OMIM:263000
Potocki-Lupski Syndrome
Atrial septal defect, Hypocholesterolemia, Patent foramen ovale OMIM:610883
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Postnatal growth retardation, Neurodegeneration, Short stature ORPHA:309246
Cerebrotendinous Xanthomatosis
Optic atrophy, Tendon xanthomatosis, Global brain atrophy, Decreased nerve conduction velocity, A... ORPHA:909
X-Linked Centronuclear Myopathy
Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type... ORPHA:596
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia OMIM:266510
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol... OMIM:608776
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixb
Hypoglycemia, Hepatomegaly, Splenomegaly, Hyperuricemia OMIM:261750
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Respiratory distress OMIM:615042
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Loss ... ORPHA:391428
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress ORPHA:2140
Episodic Ataxia Type 1
Calf muscle hypertrophy, Cerebellar atrophy, Respiratory distress ORPHA:37612
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Dyspnea, Weight loss, Respiratory distress ORPHA:142
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Neurodegeneration, Gait disturbance, Broad-based gait ORPHA:79244
Myotonic Dystrophy 1
Cerebral atrophy, Facial diplegia, Respiratory distress OMIM:160900
Laryngomalacia
Respiratory distress OMIM:150280
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Cerebral atrophy, Failure to thrive, Respiratory distress OMIM:250940
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Hypergly... OMIM:615812
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Respiratory distress ORPHA:79312
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching, Failure to thrive, Skeletal muscle atrophy, Flex... ORPHA:367
Malaria
Respiratory distress ORPHA:673
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Choreoathetosis, Neurodegeneration, Ataxia OMIM:606159
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Cerebellar atrophy, Flexion contracture, Respiratory distress ORPHA:544503
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Neurodegeneration, Lower limb muscle weakness OMIM:300100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Oculopharyngodistal Myopathy 1
Respiratory distress, Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic... OMIM:164310
Recurrent Respiratory Papillomatosis
Failure to thrive, Tachypnea, Dyspnea, Respiratory distress ORPHA:60032
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Decreased nerve conduction velocity, Respiratory distress, Sensory ax... OMIM:618733
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachypnea, Respiratory distress ORPHA:264675
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Facial palsy, Scapular winging, Decrea... ORPHA:98915
Isolated Atp Synthase Deficiency
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Respiratory distress ORPHA:254913
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Skeletal muscle at... OMIM:146500
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Respiratory distress ORPHA:89844
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Respiratory distress, Facial palsy, Dyspnea, Hand muscle atrophy, Skel... OMIM:211530
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Weight loss, Respiratory distress ORPHA:411703
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Optic atrophy, Acute rhabdomyolysis, Gait disturbance, Gait ataxia, Rhabdomyoly... OMIM:616878
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly, Hypoglycemia OMIM:613027
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress ORPHA:261304
Carnitine Deficiency, Systemic Primary
Failure to thrive, Reduced muscle carnitine level, Myopathy, Respiratory distress OMIM:212140
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Optic atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Neurodegene... OMIM:610217
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress ORPHA:289916
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Respiratory distress, Failure to thrive, Skeletal muscle atrophy, Myopathy, Opt... OMIM:615512
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... ORPHA:96180
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Increased cup-to-disc... ORPHA:447788
Familial Nasal Acilia
Dyspnea, Respiratory distress ORPHA:922
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Respiratory distress ORPHA:98805
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress ORPHA:140896
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Brain atrophy, Apnea, Respiratory distress ORPHA:314655
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy, Respiratory distress OMIM:300219
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Global brain atrophy, Respiratory distress, Cerebellar atrophy, Failure to thri... OMIM:618426
Holocarboxylase Synthetase Deficiency
Tachypnea, Weight loss, Respiratory distress ORPHA:79242
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Failure to thrive, Contractures of the large joints, Respiratory distress ORPHA:329178
Cryptogenic Organizing Pneumonia
Dyspnea, Weight loss, Respiratory distress ORPHA:1302
Infantile Liver Failure Syndrome 2
Hyperammonemia, Hypoglycemia, Cardiomyopathy OMIM:616483
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Tachypnea, Respiratory distress OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Exertional dyspnea, Respiratory distress, Failure to thrive, Increased intramyocel... OMIM:220110
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbil... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Increased variability in muscle fiber diameter, Respiratory distress OMIM:615595
Oromandibular Dystonia
Torticollis, Weight loss, Respiratory distress ORPHA:93958
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Moebius Syndrome
Respiratory distress, Facial diplegia, Camptodactyly, Arthrogryposis multiplex congenita, Congeni... OMIM:157900
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Alg12-Cdg
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Recurrent hypoglycemia, H... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Cardiomyopathy, Pericarditis, Pericardial effusion, Hypoalbuminemia, H... OMIM:212065
Mucopolysaccharidosis, Type Ii
Short stature, Papilledema, Severe short stature, Flexion contracture, Macroglossia, Neurodegener... OMIM:309900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Failure to thrive, Neonatal death, Apnea, Tach... OMIM:610921
Tangier Disease
Hypertriglyceridemia, Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy,... ORPHA:31150
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Failure to thrive, Dyspnea, Respiratory distress ORPHA:2707
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Global brain atrophy, Akinesia, Gait disturbance, Cerebral degeneration, Decreased... OMIM:234200
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Respiratory distress, Nemaline bodies, Joint contractu... OMIM:620278
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k... OMIM:255120
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress ORPHA:927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Gait ataxia, Ataxia, Left ventricular hypertrophy, Neurodegeneration OMIM:618321
Tetanus
Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Respirato... ORPHA:3299
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Macroglossia, Respiratory distress ORPHA:226313
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Obesity, Tachypnea, Overweight, Small for ... ORPHA:26793
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Neurodegeneration, Ataxia OMIM:618476
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebral atrophy, Cerebellar atrophy, Limb hypertonia, Respiratory distress OMIM:620306
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Nipah Virus Disease
Respiratory distress ORPHA:99825
Acute Lung Injury
Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Flexion contracture, Respiratory distress OMIM:619383
Farber Disease
Respiratory distress, Brain atrophy, Failure to thrive, Flexion contracture, Skeletal muscle atrophy ORPHA:333
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration OMIM:272750
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Sudden episodic apnea, Frontalis muscle weakness, Distal amyot... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Sudden episodic apnea, Frontalis muscle weakness, Distal amyot... ORPHA:98914
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Respiratory distress OMIM:620166
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Respiratory distress, Brain atrophy, Flexion contracture, Macroglossia OMIM:617303
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Respiratory distress, Ragged-red muscle fibers, Failure to thrive, Rhabdomyolys... ORPHA:17
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress ORPHA:2759
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Gait disturbance, Ataxia, Foot dorsiflexor weakness, Neurode... OMIM:214500
Congenital Pulmonary Lymphangiectasia
Respiratory distress ORPHA:2414
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus OMIM:616026
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Respiratory distress ORPHA:990
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Optic neuropathy, Limb muscle weakness, Apnea, Hyperventilation ORPHA:79241
3-Methylglutaconic Aciduria, Type Viib
Cerebral atrophy, Cerebellar atrophy, Flexion contracture, Respiratory distress OMIM:616271
Acquired Methemoglobinemia
Dyspnea, Respiratory distress ORPHA:464453
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Avian Influenza
Tachypnea, Rhabdomyolysis, Dyspnea, Respiratory distress ORPHA:454836
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Shoulder flexion contracture, Hypoplasia of the musculature, Elbow flexion ... OMIM:620369
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Diastasis recti, Short stature, Severe short stature, Flexion contr... OMIM:253220
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Hypocholesterolemia, Ventricular septal defect OMIM:244450
Tularemia
Respiratory distress ORPHA:3392
Mogs-Cdg
Optic atrophy, Hypoventilation, Respiratory distress, Absent brainstem auditory responses, Apnea,... ORPHA:79330
Tetrasomy 5P
Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory distress ORPHA:3309
Cryptococcosis
Respiratory distress, Abnormal cranial nerve morphology, Dyspnea, Limb muscle weakness, Cerebral ... ORPHA:1546
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Gaucher Disease, Perinatal Lethal
Respiratory distress, Decreased body weight, Apnea, Neonatal death, Arthrogryposis multiplex cong... OMIM:608013
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Respiratory distress OMIM:606164
Japanese Encephalitis
Distal lower limb muscle weakness, Respiratory distress, Elbow flexion contracture, Facial palsy,... ORPHA:79139
Staphylococcal Necrotizing Pneumonia
Tachypnea, Dyspnea, Respiratory distress ORPHA:36238
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Exertional dyspnea, Respiratory distress, Facial... ORPHA:365
Chitayat Syndrome
Respiratory distress OMIM:617180
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Alfadhel Syndrome
Nasal flaring OMIM:620655
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress OMIM:251000
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Ragged-red muscle fibers, Dyspnea, Failure to thrive, Apnea, Episodic respiratory ... ORPHA:255210
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Respiratory distress OMIM:607143
Mgat2-Cdg
Brain atrophy, Failure to thrive, Respiratory distress ORPHA:79329
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Craniofaciofrontodigital Syndrome
Large for gestational age, Macroglossia, Dyspnea, Respiratory distress ORPHA:363705
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Tachypnea, Dyspnea, Respiratory distress OMIM:610913
Ramos-Arroyo Syndrome
Severe failure to thrive, Aganglionic megacolon, Respiratory distress, Decreased body weight, Abn... ORPHA:1051
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Myopathy, Respiratory distress OMIM:115197
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Cerebral atrophy, Respiratory distress, Atrophy of the spinal cord, Failure to thr... ORPHA:79282
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Respiratory distress, Failure to thrive, Left ventricular hypertrophy, Macroglo... ORPHA:308552
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Central apnea, Respiratory distress OMIM:616482
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Hurler Syndrome
Short stature, Macroglossia, Neurodegeneration, Flexion contracture OMIM:607014
Mercury Poisoning
Dyspnea, Respiratory distress ORPHA:330021
Kniest Dysplasia
Hip contracture, Respiratory distress OMIM:156550
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Respiratory distress OMIM:612852
Shwachman-Diamond Syndrome 1
Failure to thrive, Myocardial necrosis, Small for gestational age, Respiratory distress OMIM:260400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Respiratory distress OMIM:151210
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Respiratory distress, Brain atrophy, Flexion contracture, Macroglossia ORPHA:505248
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Tachypnea, Respiratory distress OMIM:610978
Alternating Hemiplegia Of Childhood
Facial hypotonia, Respiratory distress, Abnormal autonomic nervous system physiology, Failure to ... ORPHA:2131
Neuroblastoma
Weight loss, Horner syndrome, Respiratory distress ORPHA:635
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress ORPHA:1555
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Respiratory distress ORPHA:438216
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating 7-dehydroch... OMIM:270400
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Failure to thrive, Decreased number of peripheral myelinated nerve fiber... OMIM:256810
Diaphanospondylodysostosis
Respiratory distress OMIM:608022
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Respiratory distress OMIM:613309
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Obesity, Respiratory distress ORPHA:177907
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Cachexia, Failure to thrive in infancy, Respiratory distress ORPHA:37042
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Dyspnea, Nasal flaring ORPHA:90051
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Nijmegen Breakage Syndrome
Intrauterine growth retardation, Rhabdomyosarcoma, Neurodegeneration, Short stature OMIM:251260
Bacterial Toxic-Shock Syndrome
Myositis, Tachypnea, Respiratory distress ORPHA:36234
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Facial hypotonia, Respiratory distress, Decreased bo... OMIM:615273
Rodrigues Blindness
Nasal flaring OMIM:268320
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Respiratory distress OMIM:123790
Choanal Atresia
Respiratory distress ORPHA:137914
Meier-Gorlin Syndrome 1
Respiratory distress, Camptodactyly, Failure to thrive, Flexion contracture, Small for gestationa... OMIM:224690
Adnp Syndrome
Cerebral atrophy, Truncal obesity, Respiratory distress ORPHA:404448
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Tip-toe gait, Torticollis, Broad-based gait, Falls, Decreased body weight, Failu... OMIM:619475
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Peripapillary atrophy, Torticollis, Respiratory distress ORPHA:536467
Complete Atrioventricular Septal Defect
Right ventricular hypertrophy, Failure to thrive, Tachypnea, Intercostal retractions ORPHA:1329
Brain-Lung-Thyroid Syndrome
Failure to thrive, Respiratory distress ORPHA:209905
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Brain atrophy, Failure to thrive, Diffuse cerebral atrophy, Contracture of ... ORPHA:83617
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Apnea, Myopathy, Respiratory distress OMIM:261740
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration ORPHA:31826
Radio-Renal Syndrome
Dyspnea, Respiratory distress ORPHA:3015
Esophageal Atresia
Failure to thrive in infancy, Episodic respiratory distress, Small for gestational age, Respirato... ORPHA:1199
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress ORPHA:100050
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Dyspnea, Skeletal muscle atrophy, Respiratory distress ORPHA:3260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Stüve-Wiedemann Syndrome
Respiratory distress, Elbow flexion contracture, Abnormal autonomic nervous system physiology, Ca... ORPHA:3206
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Q Fever
Weight loss, Respiratory distress ORPHA:781
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Failure to thrive, Dyspnea, Respiratory distress ORPHA:2554
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Arterial Tortuosity Syndrome
Dyspnea, Respiratory distress ORPHA:3342
Cocaine Intoxication
Respiratory distress, Tachypnea, Rhabdomyolysis, Hyperventilation ORPHA:90068
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Respiratory distress ORPHA:210122
Toxic Epidermal Necrolysis
Weight loss, Respiratory distress ORPHA:537
Schinzel-Giedion Syndrome
Aganglionic megacolon, Respiratory distress, Camptodactyly, Cerebral cortical atrophy, Failure to... ORPHA:798
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Respiratory distress OMIM:617156
Achondroplasia
Respiratory distress OMIM:100800
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Osteogenesis Imperfecta, Type X
Respiratory distress OMIM:613848
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Osteoglophonic Dysplasia
Camptodactyly of finger, Failure to thrive, Respiratory distress OMIM:166250
Lujo Hemorrhagic Fever
Respiratory distress ORPHA:319213
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Arboleda-Tham Syndrome
Optic atrophy, Respiratory distress, Lower limb amyotrophy, Lower limb hypertonia, Upper limb amy... OMIM:616268
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Short stature, Optic nerve hypoplasia, Failure to thrive, Neurodegeneration OMIM:620455
Scimitar Syndrome
Hypoplasia of the diaphragm, Abnormal hemidiaphragm morphology, Respiratory distress ORPHA:185
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Dyspnea, Respiratory distress ORPHA:2556
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Dyspnea, Respiratory distress ORPHA:340
Congenital Tracheomalacia
Failure to thrive, Apnea, Dyspnea, Intercostal retractions ORPHA:95430
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Global brain atrophy, Small for gestational age, Respiratory distress ORPHA:508488
Colchicine Poisoning
Respiratory distress ORPHA:31824
Campomelic Dysplasia
Contracture of the distal interphalangeal joint of the fingers, Failure to thrive, Apnea, Respira... OMIM:114290
Gitelman Syndrome
Failure to thrive, Rhabdomyolysis, Respiratory distress ORPHA:358
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Flexion contracture, Truncal obesity, Small for gestatio... OMIM:180849
Listeriosis
Rhabdomyolysis, Respiratory distress ORPHA:533
Aortic Arch Interruption
Left ventricular hypertrophy, Tachypnea, Exertional dyspnea, Respiratory distress ORPHA:2299
Nocardiosis
Dyspnea, Weight loss, Respiratory distress ORPHA:31204
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress ORPHA:2330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Small for gestational age, Respiratory distress ORPHA:2255
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Dyspnea, Respiratory distress ORPHA:79404
Primrose Syndrome
Delayed puberty, Truncal obesity, Distal amyotrophy, Short stature, Hip contracture, Ataxia, Skel... OMIM:259050
Isolated Arrhinia
Respiratory distress ORPHA:1134
Tuberous Sclerosis Complex
Respiratory di