Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.63% (1 of 158)
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
uterus 0.37% (2 of 535)
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

View all 105 images

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
Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Poor eye contact, Self-injurious behavior, Involuntary movem... OMIM:617820
Developmental And Epileptic Encephalopathy 101
Apnea, Myoclonus, Opisthotonus OMIM:619814
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Oculogyric crisis, Spasticity, Spastic tetraplegia, Pa... ORPHA:208447
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Oculogyric crisis, Chorea, Spasticity, Dystonia, Eyeli... ORPHA:178469
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Myoclonus, Oculogyric crisis, Hyperkinetic movements,... OMIM:614254
Early Infantile Epileptic Encephalopathy
Failure to thrive, Self-injurious behavior, Hyperactivity, Myoclonus, Tremor, Choreoathetosis, Sp... ORPHA:1934

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

Disease Similarity of
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
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
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions, Inability to walk OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness OMIM:618221
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300425
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Spasticity, Aggressive behavior, Impaired social interactions, Slurred speech OMIM:618103
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Poor eye contact, Self-injurious behavior, Involuntary movem... OMIM:617820
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Phosphoserine Aminotransferase Deficiency
Apnea, Hypertonia, Myoclonus, Cyanotic episode, Death in infancy OMIM:610992
Immunodeficiency 8
Hyperactivity OMIM:615401
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Hepatojugular ... ORPHA:2302
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:254210
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG, Cyanosis OMIM:607745
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Joubert Syndrome 33
Apnea, Ataxia, Molar tooth sign on MRI, Oculomotor apraxia OMIM:617767
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Ravine Syndrome
Apnea, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Spast... ORPHA:99852
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Impaired social interactions OMIM:617051
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG, Cyanosis OMIM:601764
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor, Dystonia OMIM:619651
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300495
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Failure to thrive, Poor eye contact, Tetraparesis OMIM:608097
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Involuntary movemen... ORPHA:468620
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... ORPHA:79126
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Pneu... ORPHA:70587
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Poor eye contact OMIM:613886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Atelect... ORPHA:70588
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Cyanosis, Myoclonus, Hemiparesis, Chorea, Central ... ORPHA:71277
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... OMIM:616726
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Central apnea, Respiratory failure requiring assisted ventilation, Olivopo... ORPHA:166063
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Hyperkinetic movements, Stereotypical hand... ORPHA:397933
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Hypsarrhythmia OMIM:616341
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Decreased body weight, Poor eye contact, Inability to w... OMIM:617695
Stillbirth OMIM:265880
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Tremor, Difficulty walking, Emotional l... ORPHA:255
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Apnea, Fatigable weakness OMIM:614198
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Hypertonia, Respiratory insufficiency, Myoclonus, Clonus OMIM:617290
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Polymicrogyria, Lissencephaly, Aggressive behavior, Abnor... OMIM:604317
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Developmental And Epileptic Encephalopathy 40
Poor eye contact, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetr... OMIM:617065
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Tetraparesis, Spasticity, Tongue ... OMIM:618276
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Developmental And Epileptic Encephalopathy 15
Poor eye contact OMIM:615006
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait OMIM:614063
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Poor eye contact, Inability to walk, Myoclonus, Hyperkin... ORPHA:561854
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... ORPHA:50251
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability OMIM:617393
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity OMIM:300983
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic... ORPHA:3095
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Liddle Syndrome 3
Hypokalemia OMIM:618126
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Gaucher Disease Type 2
Dysphagia, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction ORPHA:329249
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Atelectasis... ORPHA:922
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Apnea, Choreoathetosis, Babinski sign OMIM:612233
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Poor eye contact, Athetosis OMIM:618141
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... OMIM:619150
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Developmental And Epileptic Encephalopathy 44
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Dystonia, Irritability OMIM:617132
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Ataxia, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Tetraparesis, Spastic... ORPHA:263410
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... OMIM:613670
Myoclonus, Intractable, Neonatal
Apnea, Myoclonus, Chorea, Athetosis, Dysphagia OMIM:617235
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Ataxia, Dysmetria, Central hypoventilation, Dysphagia, Respiratory failure OMIM:618233
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood, Atrophy/Degeneration affecting the brainstem, Upper limb spasticity, L... OMIM:611523
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Aspiration pneumonia, Respiratory failure requiri... ORPHA:90117
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Respiratory failure OMIM:610127
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Atrophy/Degeneration affecting the brainstem, Spasticity, Death in infancy, Respiratory fa... OMIM:616277
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Ground-glass opacification, Elev... OMIM:619611
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Upper airway obstruction, Pneumonia... ORPHA:3348
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... OMIM:609425
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... OMIM:616230
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... ORPHA:98755
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... OMIM:614399
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal, ... OMIM:615032
Developmental And Epileptic Encephalopathy 27
Poor eye contact, Myoclonus, Chorea, Spasticity, Dystonia OMIM:616139
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Joubert Syndrome 7
Ataxia, Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Oculomoto... OMIM:611560
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy OMIM:619099
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Right bundle branch block, Dysphagia, Exertional dyspnea, Pulmonary f... ORPHA:254361
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Cdkl5-Deficiency Disorder
Gait disturbance, Difficulty walking, Poor eye contact, Stereotypical hand wringing ORPHA:505652
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... ORPHA:444002
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Dystonia, Short stature OMIM:616113
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Developmental And Epileptic Encephalopathy 98
Attention deficit hyperactivity disorder, Poor eye contact OMIM:619605
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea OMIM:616414
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity, Cyanosis ORPHA:306
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Developmental And Epileptic Encephalopathy 14
Poor eye contact, Spasticity, Tetraplegia, Clonus OMIM:614959
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Limb myoclonus, Clonus ORPHA:1949
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Hypoplasia of the pons, Death in infancy, Spasticity, Dysphagia, Respirato... OMIM:225753
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Spasticity, Aggressive behavior, Impaired social interac... OMIM:610042
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Reduced vital capacity, Exertional dyspnea, Cyanosis, Orthopn... ORPHA:98913
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Childhood Disintegrative Disorder
Motor stereotypy, Abnormal emotion/affect behavior, Impaired social interactions, Anxiety ORPHA:168782
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Mental deterioration, Abnormal non... ORPHA:268947
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal social behavior ORPHA:101039
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination, Aggressive... OMIM:309548
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Fraxe Intellectual Disability
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Poor eye contact, Intention tremor, Attention deficit hyperactivity disorder, Impaired so... ORPHA:137831
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Epilepsy, Progressive Myoclonic, 12
Depression, Anxiety, Attention deficit hyperactivity disorder, Mental deterioration OMIM:619191
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Ab... OMIM:612387
Arnold-Chiari Malformation Type Ii
Paraparesis, Apnea, Ataxia, Aqueductal stenosis, Opisthotonus, Cyanosis, Abnormal medulla oblonga... ORPHA:1136
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea, Dystonia OMIM:618760
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Difficulty walking OMIM:617239
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... OMIM:617807
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Developmental And Epileptic Encephalopathy 61
Apnea, Loss of ambulation, Spasticity OMIM:617933
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Decreased body weight, Clumsiness, Poor eye contact ORPHA:324422
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... OMIM:619725
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ataxia, Myoclonus OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Ataxia, Respiratory insufficiency, Babinski sign, Dysphagia OMIM:618226
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Apneic episodes in infancy, Spasticity ORPHA:500545
Early-Onset Schizophrenia
Decreased male libido, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of ... ORPHA:96369
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Respiratory insufficiency, Oculomotor apraxia OMIM:618198
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Impaired social int... ORPHA:544254
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Developmental And Epileptic Encephalopathy 78
Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity OMIM:618557
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delayed social development,... ORPHA:208513
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Upper motor neuron dysfunction ORPHA:530983
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Poor eye contact, Spastic tetraplegia, Dystonia, Irritability OMIM:618237
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Pontocerebellar Hypoplasia Type 2
Apnea, Hypoplasia of the brainstem, Lower limb hypertonia, Impaired oropharyngeal swallow respons... ORPHA:2524
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Tics, Aggressive behavior, Att... OMIM:617788
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Hypoxemia, Respiratory failure, Oxygen desaturation on exertion, Inte... ORPHA:60025
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Hypertonia, Babinski sign, Rigidity, Myoclonic spasms, Death in infancy, Clonus OMIM:614498
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Recurrent hand flapping, Poor eye contact, Self-injurious behavior, Hyperactivi... ORPHA:449291
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Abulia, Gait disturbance, Emotional blunting, Aggressive behavior, Fasc... ORPHA:275864
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Pontocerebellar Hypoplasia, Type 16
Apnea, Limb hypertonia, Hypoplasia of the pons, Spastic tetraplegia, Dysphagia, Abnormality of ex... OMIM:619527
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Hereditary Methemoglobinemia
Hypertonia, Cyanosis, Athetosis, Spasticity, Spastic tetraplegia, Exertional dyspnea ORPHA:621
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypertonia, Tremor, Death in infancy, Respiratory failure OMIM:617248
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Aggressive behavi... OMIM:600795
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dysmetria, Central apnea, Spastic paraplegia, Gait ataxia, Spastic gait OMIM:615031
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Ethylmalonic Encephalopathy
Ataxia, Petechiae, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Acrocyanosis... ORPHA:51188
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Self-biting, Poor eye contact OMIM:300624
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Broad-based gait, Hypertonia, Chorea, Difficulty walking, Sp... ORPHA:79097
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Pleural empyem... ORPHA:2038
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus, Hypertonia OMIM:250800
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Clumsiness, Poor eye contact, Loss of ambulation, Hypergonadotropic hypogonadism, Athetosis OMIM:271245
Joubert Syndrome 9
Episodic tachypnea, Apnea, Molar tooth sign on MRI, Oculomotor apraxia OMIM:612285
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Cya... ORPHA:98914
Congenital Myasthenic Syndrome
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Cya... ORPHA:590
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Nemaline Myopathy 2
Apnea, Inability to walk, Gait disturbance, Frequent falls, Waddling gait, Dysphagia, Respiratory... OMIM:256030
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:142
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Poor eye contact, Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia OMIM:618451
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Poor eye contact OMIM:618374
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tre... OMIM:300055
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 28
Failure to thrive, Poor eye contact, Abnormal pyramidal sign, Choreoathetosis, Lower limb spasticity OMIM:618249
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity OMIM:618718
Gómez-López-Hernández Syndrome
Ataxia, Impaired pain sensation, Abnormal brainstem morphology ORPHA:1532
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact ORPHA:411986
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
X-Linked Centronuclear Myopathy
Respiratory distress, Fatigable weakness of swallowing muscles, Respiratory failure requiring ass... ORPHA:596
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency, Spastic tetraplegia, Myoclonus OMIM:614462
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hyperekplexia 3
Apnea, Exaggerated startle response, Hypertonia OMIM:614618
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Failure to thrive, Broad-based gait, Gait disturbance, Speech aprax... OMIM:300352
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity OMIM:613402
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia ORPHA:1020
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Loss of ambulation, Clumsiness, Episodic tachypnea, Poor fine motor coor... ORPHA:79264
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617120
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... ORPHA:309256
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology ORPHA:2382
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age OMIM:610883
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 18
Poor eye contact OMIM:618240
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Gaucher Disease, Type Ii
Apnea, Rigidity, Recurrent aspiration pneumonia, Spasticity, Dysphagia, Oculomotor apraxia OMIM:230900
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Pseudobulbar paralysis, Poor eye contact, Dysmetria, Intention tremor, Progressive extrap... ORPHA:438114
Nephronophthisis-Like Nephropathy 2
Pulmonary infiltrates, Polydipsia, Cough, Bronchiectasis, Recurrent respiratory infections OMIM:619468
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Dysmetria, Central apnea ORPHA:320385
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Clumsiness, Hoff... ORPHA:206448
Breath-Holding Spells
Cyanosis OMIM:607578
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Limb myoclonus, Attention deficit hyperactivity disorder, Punding ORPHA:64280
Joubert Syndrome 30
Apnea, Molar tooth sign on MRI, Tachypnea OMIM:617622
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Irritability, Dementia OMIM:606438
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Ataxia, Episodic tachypnea, Central apnea, Neonatal breat... OMIM:608629
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Aggressive behavior, Suicidal ide... ORPHA:208441
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation OMIM:615361
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Hyperactivity, Self-mutilation, Cerebral palsy, Stereotypical hand wrin... ORPHA:163681
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... ORPHA:309263
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Chorea, Spasticity, Dystonia ORPHA:88616
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Myoclonus, Rigidity OMIM:300673
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Pick Disease Of Brain
Motor stereotypy, Apathy, Emotional blunting, Diminished motivation, Irritability OMIM:172700
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Tongue fasciculat... OMIM:608800
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Central Diabetes Insipidus
Depression, Polydipsia, Anxiety ORPHA:178029
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Hypergonadotropic hypogonadism, Attention deficit hyperactivity disorder, Male... ORPHA:163976
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Developmental And Epileptic Encephalopathy 55
Limb hypertonia, Inability to walk, Poor eye contact, Clonus OMIM:617599
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Intellectual Developmental Disorder, Autosomal Dominant 45