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Gene: Grin1 MGI:95819

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Gene Summary

Name:
glutamate receptor, ionotropic, NMDA1 (zeta 1)
Synonyms:
M100174,  Nmdar,  GluRzeta1,  NR1,  Rgsc174,  NMDAR1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating potassium level Grin1tm1a(EUCOMM)Wtsi HET Early adult 2.32×10-05
thrombocytopenia Grin1tm1a(EUCOMM)Wtsi HET Early adult 5.35×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney 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 0.0% (0 of 2)
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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
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)
Parathyroid gland 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 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Grin1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 105 images

Grin1tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
eye, fused cornea and lens, corneal vascularization, corneal opacity, HET, Female, WTSI
Grin1tm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, abnormal placement of pupils, HET, Male, WTSI
Grin1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Grin1 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 Grin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal repetitive man... OMIM:617820
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Bruxism, Inappropriate laughter, Oculogyric crisis, Self-injurious behavior, S... OMIM:614254
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Apnea OMIM:619814
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Self-injurious behavior, Oral-pharyngeal dysphagia, Abnormal repetitive manner... ORPHA:208447
Early Infantile Epileptic Encephalopathy
Hypsarrhythmia, EEG with spike-wave complexes, Hyperactivity, EEG abnormality, Uni- and bilateral... ORPHA:1934

The table below shows human diseases predicted to be associated to Grin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Basal Ganglia Calcification, Idiopathic, 4
Depression, Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia OMIM:615007
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions, Inability to walk OMIM:606053
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Autism
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired social interactions, Unsteady gait, Abnormal repetitive mannerisms, Impaired ability to ... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions OMIM:618103
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Perching Syndrome
Dysphagia, Cyanosis, Respiratory distress OMIM:617055
Seizures, Benign Familial Infantile, 3
Cyanosis, Normal interictal EEG, Apnea OMIM:607745
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Asbestos Intoxication
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... ORPHA:2302
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... OMIM:253240
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Decreased miniature endp... OMIM:254210
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea, Cyanotic episode, Myoclonus, Hypertonia OMIM:610992
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Abnormal repetitive mann... OMIM:172700
Seizures, Benign Familial Infantile, 1
Cyanosis, Normal interictal EEG, Apnea OMIM:601764
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Ravine Syndrome
Spasticity, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, ... ORPHA:99852
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, T... ORPHA:70589
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Neonatal respiratory distress, Aspiration, Dyspnea, Stri... ORPHA:2004
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing ORPHA:137935
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Decreased miniature endp... OMIM:605809
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Ataxia, Bruxism, Inappropriate laughter, Abnormal repetitive mannerisms, Aggressive behavi... OMIM:619150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal repetitive man... OMIM:617820
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Stridor, Atelectasis, Respiratory insufficiency, Syncope, Non... ORPHA:60032
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly ORPHA:231393
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Bradycardia, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pu... ORPHA:70587
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal ... ORPHA:70588
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent pne... OMIM:616726
Acute Interstitial Pneumonia
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Pleura... ORPHA:79126
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... OMIM:619466
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Rigidity, Apnea, Respiratory failure, Hypertonia OMIM:613869
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Central apnea, Myoclonus, Paralysis, Cyanosis, ... ORPHA:71277
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspn... OMIM:265120
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... OMIM:616269
Intellectual Developmental Disorder, Autosomal Recessive 6
Impaired social interactions OMIM:611092
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Pontocerebellar Hypoplasia Type 4
Olivopontocerebellar hypoplasia, Central apnea, Hypoplasia of the brainstem, Myoclonus, Respirato... ORPHA:166063
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Dysphagia, Respiratory dis... OMIM:619751
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Laryngeal Abductor Paralysis
Dysphagia, Stridor, Cyanosis OMIM:150260
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Hypsarrhythmia, Death in infancy OMIM:616341
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Bruxism, Paroxysmal bursts of laughter, Tremor, Self-injurious ... OMIM:618718
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis, Restrictive ventilatory defect... ORPHA:2902
Succinic Acidemia
Respiratory distress OMIM:600335
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spinocerebellar Ataxia 40
Unsteady gait, Pontocerebellar atrophy, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... OMIM:616053
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Recurrent respiratory infections, Neonatal respiratory distress, Whee... OMIM:610978
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Tetraparesis, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Ataxia, Restlessness,... ORPHA:263410
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Dysphagia, Respiratory distress, Pleural ... ORPHA:50251
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body ... OMIM:614063
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Familial Nasal Acilia
Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Joubert Syndrome 33
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Apnea OMIM:617767
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Periodic paralysis, Gait disturbance, Apnea OMIM:614198
Dystonia 11, Myoclonic
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression OMIM:159900
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Central apnea, Respiratory failure, Hypertonia OMIM:611722
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Gait ataxia, Myoclonus OMIM:615957
Gaucher Disease Type 2
Dysphagia, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Dystonia, Inability to walk, Gait disturbance, Difficulty walkin... ORPHA:255
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Choanal Atresia
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Cyanosis, Chok... ORPHA:137914
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Cardiomyopathy, Dilated, 2H
Cardiorespiratory arrest, Neonatal death, Tachypnea OMIM:620203
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Inappropriate laughter OMIM:619323
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Foxg1 Syndrome
Impaired social interactions, Inability to walk, Difficulty walking, Bruxism, Paroxysmal bursts o... ORPHA:561854
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, No social interaction ORPHA:329249
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Suicidal ideation, Shyness, Restlessness, Decreased male libido, ... ORPHA:96369
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Difficulty walking, Shyness, Waddling gait, Abnormal repetitive mannerisms, Dystonia ORPHA:280763
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Pica, Abnormal repetitive mannerisms, Aggressive behavior, Choreoathetosis OMIM:617270
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... ORPHA:264675
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Primary Dystonia, Dyt13 Type
Torsion dystonia, Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dyston... ORPHA:98807
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors... ORPHA:444002
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Dementia, Frontal lobe dementia, Irrit... OMIM:600274
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Aggressive behavior, Emotional lability, Agitation OMIM:617171
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity OMIM:300271
Mohr-Tranebjaerg Syndrome
Inability to walk, Absent brainstem auditory responses, Attention deficit hyperactivity disorder,... ORPHA:52368
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Anxiety, Attention deficit hyperactivity disorder, Failure to thrive in infancy, Self-injurious b... OMIM:613670
Bronchogenic Cyst
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Dysphagia, Bronchogenic cyst, Pulmonary ... ORPHA:2357
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Central hypoventilation, Dysphagia, Sleep apnea, Apnea, Respiratory failure, Broad-based ... OMIM:618233
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Delayed social development, Recurrent hand flapping OMIM:618147
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Dysphagia, Tremor, Choreoathetosis ORPHA:391417
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Dyspnea, Aspiration pneumonia, Cough, Dysphagia, Ab... ORPHA:90117
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Tremor, Gait ataxia, Delayed social developme... OMIM:618090
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Respiratory insufficien... OMIM:614399
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Atrophy/Degeneration affecting the brainstem, Death in infancy, Apnea, Respiratory fa... OMIM:616277
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorr... ORPHA:199241
Intellectual Developmental Disorder, Autosomal Dominant 7
Small for gestational age, Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Failu... OMIM:614104
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Atrophy/Degeneration affecting the brainstem, Action myoclo... OMIM:616230
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... OMIM:265450
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Right bundle branch block, Exertional ... ORPHA:254361
Autism, Susceptibility To, 3
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608049
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Spinocerebellar Ataxia Type 1
Gait disturbance, Progressive cerebellar ataxia, Atrophy/Degeneration affecting the brainstem, Ab... ORPHA:98755
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Huntington Disease-Like 1
Restlessness, Anxiety, Dementia, Depression, Aggressive behavior OMIM:603218
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Chorea, Dysphagia, Apnea, Athetosis, Myoclonus OMIM:617235
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy OMIM:619099
Cdkl5-Deficiency Disorder
Gait disturbance, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand wringing ORPHA:505652
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Hyperactivity, Anxiety, Failure to thrive, Gait ataxia, Abnormal repet... OMIM:609425
Joubert Syndrome 7
Oculomotor apraxia, Ataxia, Neonatal breathing dysregulation, Brainstem dysplasia, Episodic tachy... OMIM:611560
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depression OMIM:619191
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Cyan... ORPHA:2414
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea OMIM:620085
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Impaired social interactions OMIM:617051
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Bro... OMIM:617862
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Ataxia, Respiratory insufficiency, Rigidity, Apnea, Neonatal death, Respiratory failure OMIM:610127
Christianson Syndrome
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Cachexia, Dysphagia, Gait atax... ORPHA:85278
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Tachypnea OMIM:616414
Benign Familial Neonatal Epilepsy
Limb myoclonus, Clonus, Circumoral cyanosis, Apnea ORPHA:1949
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Restrictive ventilatory defect, Decreased miniature en... ORPHA:98913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Benign Familial Infantile Epilepsy
Cyanosis, Normal interictal EEG, Apnea, Interictal epileptiform activity ORPHA:306
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavio... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Abnormal repetitive mannerisms, Aggressive behavior, Broad-based gait OMIM:619470
Thyroid Lymphoma
Dyspnea, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor ORPHA:97285
Fraxe Intellectual Disability
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavio... ORPHA:100973
Acute Lung Injury
Dyspnea, Alcoholism, Hypoxemia, Respiratory distress, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Anxiety, Impaired social interactions, Abnormal emotion/affect be... ORPHA:168782
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Obsolete: Arnold-Chiari Malformation Type Ii
Spasticity, Brain stem compression, Somatic sensory dysfunction, Ataxia, Difficulty walking, Para... ORPHA:1136
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmon... ORPHA:79127
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Manganese Poisoning
Emotional lability, Dystonia, Gait disturbance, Decreased male libido, Inappropriate laughter, De... ORPHA:306682
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Developmental And Epileptic Encephalopathy 61
Spasticity, Loss of ambulation, Apnea OMIM:617933
Intellectual Developmental Disorder, X-Linked 1
No social interaction OMIM:309530
Surfactant Metabolism Dysfunction, Pulmonary, 4
Decreased DLCO, Restrictive ventilatory defect, Reduced forced expiratory volume in one second, R... OMIM:300770
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Atypical Rett Syndrome
Spasticity, Impaired pain sensation, Limb myoclonus, Inability to walk, Gait disturbance, Agitati... ORPHA:3095
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Limb ataxia, Torticollis, Somatic sensory dysfunction, Atrophy/Degeneration affec... OMIM:619862
Spastic Paraplegia 47, Autosomal Recessive
Overweight, Inability to walk, Shyness, Waddling gait, Dystonia OMIM:614066
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Bruxism, Inappropriate laughter, Oculogyric crisis, Self-injurious behavior, S... OMIM:614254
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Irritability, Inertia, Memory impairment, Depres... OMIM:606438
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Alcoholism, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pleu... ORPHA:36238
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Dysphagia, Ga... OMIM:615157
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Pontocerebellar Hypoplasia, Type 16
Spastic tetraplegia, Limb hypertonia, Hypoplasia of the pons, Abnormality of extrapyramidal motor... OMIM:619527
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Spasticity, Upper limb hypertonia, Babinski sign, Apnea,... ORPHA:2524
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity OMIM:605899
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction OMIM:130700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... OMIM:617519
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Frontalis muscle weakness... OMIM:300580
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Cough, Palpitations, Hypoxemia, Ischemic ... ORPHA:2038
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Death in childhood, Ataxia, Apnea, Myoclonus OMIM:618225
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Attention deficit hyperactivity disorder ORPHA:137831
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema, Respiratory distress, Upper airway obstruction, Urticaria ORPHA:100057
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... OMIM:234810
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Hereditary Methemoglobinemia
Spasticity, Spastic tetraplegia, Athetosis, Cyanosis, Hypertonia, Exertional dyspnea ORPHA:621
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Pontocerebellar Hypoplasia, Type 6
Spasticity, Death in childhood, Atrophy/Degeneration affecting the brainstem, Apnea, Upper limb s... OMIM:611523
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... OMIM:607616
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity ORPHA:411515
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Ataxia, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... ORPHA:320401
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurre... OMIM:620233
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Self-mutilation, Hyperactivity, Simplified gyral pattern, Gray matter heterotopia... OMIM:604317
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Apraxia, Apnea, Tremor, Bradykinesia, Sp... OMIM:300055
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Spastic paraplegia, Central apnea, Spastic gait, Dysmetria OMIM:615031
Ethylmalonic Encephalopathy
Abnormal pyramidal sign, Abnormal brainstem MRI signal intensity, Ataxia, Abnormality of extrapyr... ORPHA:51188
Epilepsy, Early-Onset, Vitamin B6-Dependent
Respiratory insufficiency, Hypertonia, Myoclonus, Apnea OMIM:617290
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Restrictive ventilatory defect, Abnormal breath sound, Hypoxemia, ... ORPHA:2257
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping OMIM:618859
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Impaired distal vibration sensation, Progressive spastic... ORPHA:320365
Monosodium Glutamate Sensitivity
Flushing, Dyspnea OMIM:231630
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Spasticity, Apneic episodes in infancy ORPHA:500545
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior, Abnorm... ORPHA:228402
Lennox-Gastaut Syndrome
Myoclonus, Abnormal brainstem morphology, Hyperactivity, Falls ORPHA:2382
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Hypertonia, Opisthotonus, Exertional dyspnea OMIM:250800
Anaplastic Thyroid Carcinoma
Dyspnea, Cough, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor ORPHA:142
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms, Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormal eating behavior, Impaired social interactions, Gait disturba... ORPHA:544254
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Apathy, Restlessness, Collectionism, Disinhibition, Abulia, Irritability, Abnor... ORPHA:275864
Joubert Syndrome 9
Episodic tachypnea, Molar tooth sign on MRI, Oculomotor apraxia, Apnea OMIM:612285
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Folinic Acid-Responsive Seizures
Ataxia, Difficulty walking, Chorea, Respiratory distress, Apnea, Spastic tetraparesis, Hypertonia... ORPHA:79097
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Emotional lability, Inability to walk, Ataxia, Anxiety, Attention deficit hyperactivity disorder,... OMIM:619580
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Stridor, Central sleep... ORPHA:98914
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Stridor, Central sleep... ORPHA:590
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Nemaline Myopathy 2
Frequent falls, Inability to walk, Gait disturbance, Respiratory insufficiency due to muscle weak... OMIM:256030
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Head titubation, Apnea, Spastic paraplegia, Babinski sign, Choreoathetosis OMIM:612233
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overweight OMIM:620065
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:613561
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Spastic tetraplegia, Ataxia, Atrophy/Degeneration affecting the brainstem, Attention deficit hype... OMIM:619971
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Oculomotor apraxia, Respiratory insufficiency, Apnea OMIM:618198
Heparin-Induced Thrombocytopenia
Myocardial infarction, Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism ORPHA:3325
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Aggressive behavior, Suicidal ide... ORPHA:208441
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Hypoxemia, Respiratory failure, Pneumothorax, Cyanosis, Oxyge... ORPHA:60025
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Attention deficit hyperactivity disor... OMIM:617695
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Respiratory distress, Fatigable weakness of swallowing musc... ORPHA:596
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Irritability, Difficulty walking, Failure to thrive OMIM:617393
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, EEG with persistent abnormal rhythmic activity, Ataxia, Difficulty walking, Los... ORPHA:206443
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Central Diabetes Insipidus
Polydipsia, Depression, Anxiety ORPHA:178029
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Inability to walk OMIM:617830
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Spinocerebellar Ataxia Type 29
Ataxia, Dysdiadochokinesis, Gait ataxia, Intention tremor, Delayed social development, Dysmetria ORPHA:208513
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, A... ORPHA:244
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Ataxia, Anxiety, Dysphagia, Tremor, Action tremor, Aggressive behav... OMIM:619738
Mitochondrial Complex I Deficiency, Nuclear Type 6
Abnormal pyramidal sign, Ataxia, Respiratory insufficiency, Apnea, Sleep apnea OMIM:618228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Abnormal pyramidal sign, Gait disturbance, Unsteady gait, Ataxia, Clonus, Respiratory insufficien... OMIM:616479
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Gómez-López-Hernández Syndrome
Impaired pain sensation, Abnormal brainstem morphology, Ataxia ORPHA:1532
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:464453
Baker-Gordon Syndrome
Inability to walk, Ataxia, Self-injurious behavior, Abnormal repetitive mannerisms, Choreoathetos... OMIM:618218
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Decreased body weight, Paroxysmal bursts of laughter OMIM:618347
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, ... ORPHA:747
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Attention deficit hyperactivity disorder, Failure to thrive, Hyperg... ORPHA:163976
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Apathy, Restlessness, Disinhibition, Abnormal repetitive mannerisms, Aggressive... OMIM:600795
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior, Agitation ORPHA:1020
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Central apnea, Dysmetria ORPHA:320385
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Breath-Holding Spells
Cyanosis OMIM:607578
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance, Tongue thrus... ORPHA:411511
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Inability to walk, Self-injurious behavior, Gait ataxia, Stereotypical hand wringing, A... OMIM:618917
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... OMIM:300835
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Apathy, Disinhibition, Dysphagia, Abnormal repetitive mannerisms OMIM:612069
Joubert Syndrome 30
Molar tooth sign on MRI, Apnea, Tachypnea OMIM:617622
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Respiratory insufficiency, Apnea, Dysphagia, Babinski sign OMIM:618226
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Abnormal pons morpholog... ORPHA:206448
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Rigidity, Central hypoventilation, Apnea, Myoclonus OMIM:300673
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Parkinsonism, Aspiration pneumonia, Clumsiness, Loss of ambulation, Apnea, Dysp... ORPHA:79264
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Chiari Malformation Type Ii
Ataxia, Dysphagia, Opisthotonus, Cyanosis, Inspiratory stridor OMIM:207950
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... OMIM:613101
Encephalopathy, Ethylmalonic
Ataxia, Death in infancy, Abnormality of extrapyramidal motor function, Petechiae, Babinski sign,... OMIM:602473
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Paroxysmal dyspnea, Respiratory failure, Cyanosis, Stridor ORPHA:444013
Atrial Septal Defect, Ostium Secundum Type
Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Breathing dysreg... ORPHA:99103
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Punding, Abnormal social behavior ORPHA:64280
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Joubert Syndrome 3
Oculomotor apraxia, Ataxia, Neonatal breathing dysregulation, Elongated superior cerebellar pedun... OMIM:608629
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Subcutaneous hemorrhage ORPHA:238459
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, EEG abnormality, Optic atrophy, Apnea OMIM:261680
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Tremor, Gait ... ORPHA:98794
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... ORPHA:454836
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Right ventricular failure, Synco... ORPHA:99104
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia, Immotile cilia, Recu... OMIM:244400
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Anxiety, Motor deterioration, Dementia, Frontotemporal dementia, ... ORPHA:412066
Joubert Syndrome 25
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:616781
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Pontocerebellar Hypoplasia Type 10
Spasticity, Abnormal brainstem morphology, Hypertonia ORPHA:411493
Complete Atrioventricular Septal Defect
Intercostal retractions, Abnormal EKG, Right bundle branch block, Third heart sound, Systolic hea... ORPHA:1329
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy OMIM:615042
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj... OMIM:619827
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Cyanosis, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dila... ORPHA:99106
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms, Self-injurious behavior OMIM:615282
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Phenylketonuria
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... OMIM:261600
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Pleural effusion, Restrictive ventilatory defect, Hypox... OMIM:612387
Dravet Syndrome
Parkinsonism, Cogwheel rigidity, Progressive gait ataxia, Rigidity, Bradykinesia, Cyanotic episod... ORPHA:33069
Liddle Syndrome
Hypokalemia ORPHA:526
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Shyness, Hypergonadotropic hypogonadism ORPHA:163971
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Limb hypertonia, Clonus, Death in infancy, Rigidity, Apnea, Babinski sign, Hype... OMIM:614498
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Neonatal respiratory distress, Death in childhood, Ataxia, Hypopnea, Death in infancy... OMIM:618426
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... OMIM:231200
Leigh Syndrome With Leukodystrophy
Spasticity, Progressive spastic paraplegia, Progressive cerebellar ataxia, Apnea ORPHA:255241
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Difficulty walking, Ankle clonus, Atrophy/Degeneration affecting the brainstem, Dysdiadoc... OMIM:612319
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Death in infancy, Apnea OMIM:618235
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Inability to walk, Ataxia, Apnea, Molar tooth sign on MRI OMIM:617563
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302