Gene Summary

Name:
forkhead box P2
Synonyms:
2810043D05Rik,  D0Kist7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased body weight Foxp2tm2.1Woen HET   Early adult 2.18×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxp2 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 Foxp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Childhood Apraxia Of Speech
Horizontal eyebrow, Overfolded helix ORPHA:209908
Speech-Language Disorder 1
Oromotor apraxia OMIM:602081

The table below shows human diseases predicted to be associated to Foxp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism,... OMIM:617013
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Cerebellar atrophy, Parkinsonism, Babinsk... OMIM:300423
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive inability to walk, ... ORPHA:521406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Cerebellar calcificati... OMIM:618824
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Cerebellar atrophy, Torticollis... ORPHA:71517
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
Huntington Disease
Gait ataxia, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity OMIM:143100
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia OMIM:616410
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Cerebellar atr... OMIM:617435
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Cerebellar atrophy, Parkinsonism, Rigidity ORPHA:329284
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Tremor, Impaired vibratory sensation ORPHA:217012
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Growth delay, Lower limb hypertonia, Toe walking,... ORPHA:100984
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech ORPHA:98766
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature, Progressive... OMIM:616113
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Truncal ataxia OMIM:615268
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Intention tremor, Spasticity, Progressiv... ORPHA:284332
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia OMIM:619333
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, P... OMIM:261640
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Short stature, Hemidys... OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Abnormality of extrapyramidal motor funct... OMIM:109150
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... ORPHA:98760
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Ataxia, Bradykinesia, Death in childhood OMIM:618683
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Weight loss, Bradykinesia, Cerebellar ... OMIM:137440
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebellar atrophy, Torticollis, M... OMIM:614860
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Respiratory distress, Paroxysmal suprav... ORPHA:45452
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Mgat2-Cdg
Tall stature ORPHA:79329
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Cerebellar atrophy, Torti... ORPHA:98768
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Summitt Syndrome
Obesity OMIM:272350
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Short stature OMIM:608029
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Hypotension, Leukocytosis, Cough, Pleural effusion, Nonproductive ... ORPHA:36238
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Short stepped shuffling gait, Shuf... ORPHA:412066
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor OMIM:613728
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Cerebellar atrophy, Tremor, Ataxia OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Lower limb spasticity, Unste... OMIM:616948
Huntington Disease
Inability to walk, Decreased body mass index, Dystonia, Clumsiness, Difficulty walking, Chorea, G... ORPHA:399
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Growth delay, Bradykinesia, Limb hypertonia, Oculogyric crisis, Small for gesta... ORPHA:70594
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d... OMIM:617384
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism OMIM:128235
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Limb hypertonia, Oculogyric ... ORPHA:238455
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Nathalie Syndrome
Abnormal EKG OMIM:255990
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Lower limb s... OMIM:607565
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Cerebellar atrophy, Spastic gait... OMIM:610357
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Elevated ci... OMIM:616414
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:221820
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Short stature, Postnatal growth retardation OMIM:608278
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Intention tremor, Bradykinesia, Ce... OMIM:610217
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Decrease... OMIM:617672
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Parkinsonism, Babinsk... ORPHA:289560
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Ataxia, Thrombocytopenia, Irritability, Tachypnea, Hyperammonemia ORPHA:79242
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment OMIM:600223
Narcolepsy Type 1
Obesity ORPHA:2073
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal EKG ORPHA:1177
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Hypertonia, He... OMIM:618877
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Dementia, Dysphagia, Episodic tachypnea, Emotional lability, Motor deterioration, Tachycar... ORPHA:79264
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Gait ataxia, Impaired distal proprioception, Limb ataxia, Bradykinesia, Pa... OMIM:258450
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Spastic tetraparesis, Failure to thrive, Bradykinesia OMIM:614924
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Lymphopenia, Cough, Nonproductive cough, Pneumon... ORPHA:454836
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Beta-Ketothiolase Deficiency
Thrombocytosis, Oral aversion, Hypotension, Apathy, Leukocytosis, Cough, Hyperuricemia, Hypertens... ORPHA:134
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... ORPHA:98759
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Hypermanganesemia With Dystonia 1
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Respiratory failure, Eleva... ORPHA:178320
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Tetanus
Tremor, Respiratory distress, Dysphagia, Hypertension, Opisthotonus, Tachycardia, Elevated circul... ORPHA:3299
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Diffuse cerebellar atrophy, Dysesthesia, Gait disturbance, Ataxia, Bradykinesia, Par... ORPHA:93256
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Perry Syndrome
Dystonia, Tremor, Akinesia, Weight loss, Bradykinesia, Parkinsonism, Short stepped shuffling gait... OMIM:168605
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Dyspnea, Calcinosis, Splenomegaly, Hypercalcemia, Primary hyperparathyroidism, ... OMIM:239200
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxyge... OMIM:610978
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bradykinesia,... ORPHA:98808
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema OMIM:613490
Childhood-Onset Nemaline Myopathy
Slender build, Clumsiness, Difficulty walking, Bradykinesia, Waddling gait ORPHA:171439
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Overweight, Respiratory distress, Episodic tachypnea, ... ORPHA:26793
Atypical Rett Syndrome
Pill-rolling tremor, Impaired pain sensation, Gait ataxia, Tremor, Sudden episodic apnea, Episodi... ORPHA:3095
Spinocerebellar Ataxia 26
Limb ataxia, Cerebellar atrophy, Gait ataxia, Truncal ataxia OMIM:609306
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria... ORPHA:208513
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal pyramidal sign, Abnormal cerebellum ... ORPHA:101070
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramidal motor funct... ORPHA:306682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, ... ORPHA:97349
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Nonproductive cough, Elevated circ... ORPHA:79126
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Dravet Syndrome
Cogwheel rigidity, Incoordination, Progressive gait ataxia, Poor fine motor coordination, Bradyki... ORPHA:33069
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Episod... OMIM:615160
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Oculomotor apraxia, Ataxia, Dilated fourt... ORPHA:370022
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Olivopontocerebellar atrophy, Babinski sign, Rigidity OMIM:146500
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Upper motor neuron dysfunction, Athetosis, Spasticity OMIM:500001
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Thrombocytopenia, Inguinal hernia, Methylmalonic acidemia, Anemia, Pulmonary arteria... OMIM:614857
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Pulmon... ORPHA:99106
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Infant Acute Respiratory Distress Syndrome
Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Respiratory failure, Nasal flar... ORPHA:70587
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Decreased body weight, Cerebellar atrophy, Babinski sign, Short stature ORPHA:445062
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Decreased DLCO, Reduced ... OMIM:300770
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Pyruvate Dehydrogenase Deficiency
Tremor, Dyspnea, Ataxia, Multiple lipomas, Tachypnea, Choreoathetosis ORPHA:765
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections OMIM:618042
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea OMIM:263000
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Joubert Syndrome 7
Episodic tachypnea, Central apnea, Ataxia, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Tachypnea, Elevated pulmonary artery pressure, Third heart s... ORPHA:1329
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Progressive spastic paraplegia, Bradykinesia, Weakness due to uppe... ORPHA:466722
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Citrullinemia Type I
Ataxia, Failure to thrive, Tachypnea, Hyperammonemia, Elevated plasma citrulline ORPHA:247525
Propionic Acidemia
Apnea, Hyperglycinemia, Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thrombocytopenia, Anemi... OMIM:606054
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Gait disturbance, Ataxia, ST segment elevation, Dysmetria, Cognitive impairment ORPHA:94125
Bacterial Toxic-Shock Syndrome
Abscess, Hypocalcemia, Cellulitis, Respiratory distress, Hypotension, Elevated circulating creati... ORPHA:36234
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Intraalveolar phospholipid accumulation, Dyspnea, Respiratory distress,... OMIM:610913
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Ethylene Glycol Poisoning
Hypocalcemia, Episodic respiratory distress, Hypotension, Abnormal pattern of respiration, Atrial... ORPHA:31826
Paragangliomas 3
Episodic paroxysmal anxiety, Palpitations, Extraadrenal pheochromocytoma, Hypertension associated... OMIM:605373
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Paragangliomas 1
Episodic paroxysmal anxiety, Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hy... OMIM:168000
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Emphysema, Acute infectious pneumonia, Hemoptysis, R... ORPHA:60033
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Allergic Bronchopulmonary Aspergillosis
Emphysema, Hemoptysis, Bronchiectasis, Abnormal bronchus morphology ORPHA:1164
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Multiple Carboxylase Deficiency
Tachypnea, Hyperammonemia, Respiratory distress, Ataxia ORPHA:148
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Lethargy, Gait ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, H... ORPHA:254892
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Oculomotor apraxia, Cerebellar dysplasia, Dilated ... OMIM:615960
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Thrombocytosis, Hypotension, Apathy, Leukocytosis, Hyperuricemia, Ataxia, Weight loss, Car... ORPHA:20
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:613155
Cholera
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Tachycard... ORPHA:173
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Cerebellar hypoplasia, Opisthotonus, Cerebellar atrophy, Limb hypertonia, Babin... OMIM:612389
Parkinsonian-Pyramidal Syndrome
Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Myoclonus, Babinski sign, Intentio... ORPHA:171695
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Elevated circulating creati... ORPHA:542323
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar d... ORPHA:457240
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Pyruvate Carboxylase Deficiency
Tremor, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in blood, Inc... ORPHA:3008
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Resting trem... ORPHA:411602
Progressive Supranuclear Palsy
Dystonia, Tremor, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Death in childhood, Hydrocephalus, ... OMIM:613153
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Abcd Syndrome
Large for gestational age OMIM:600501
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Failure to thrive, Tremor, Ataxia OMIM:220111
Serotonin Syndrome
Tremor, Hypotension, Hypertension, Tachycardia, Irritability, Anxiety, Tachypnea, Mental deterior... ORPHA:43116
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, St... ORPHA:778
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, A... OMIM:615934
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Hyperammonemia, Sudden cardiac death, Elev... OMIM:201475
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Ventilator dependence with inability to wean, Inspiratory stridor, Respi... OMIM:604320
Pontocerebellar Hypoplasia, Type 2A
Cerebellar hypoplasia, Opisthotonus, Death in childhood, Extrapyramidal dyskinesia, Hypoplasia of... OMIM:277470
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Dementia, Abnormal T-wave, Motor deterioration, Gait aprax... OMIM:312750
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Hypertrophic... OMIM:616501
Parkinson Disease, Late-Onset
Dystonia, Tremor, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Halothane Hepatitis
Obesity OMIM:234350
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Tachypnea, Hyperammonemia, Hyperventilation OMIM:253270
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Abnormal respiratory system morphology, Emphys... ORPHA:70589
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Waddling gait, Dilated cardiomyopathy, Abno... OMIM:310200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bra... OMIM:157640
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Hyperuricemia, Apneic episodes in infancy, Neo... ORPHA:348
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus, Pulmonic stenosis, Heart murmur, Tachycardia, Fai... ORPHA:3426
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Respiratory insufficiency, Atelectasis... OMIM:618278
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Progressive cerebellar ataxia OMIM:183086
Scorpion Envenomation
Cardiogenic shock, Tremor, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Pares... ORPHA:466677
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Elevated circulating creatine kinas... ORPHA:90068
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Intraalveolar phospholipid accumulation, Dyspnea, Neonatal respiratory distress, Respirato... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Intraalveolar phospholipid accumulation, Dyspnea, Respiratory distress, Exertional dyspnea... OMIM:610921
Adiposis Dolorosa
Obesity OMIM:103200
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after e... ORPHA:423
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnorm... OMIM:614963
Adult-Onset Dystonia-Parkinsonism
Dystonia, Eyelid apraxia, Clumsiness, Tremor, Parkinsonism with favorable response to dopaminergi... ORPHA:199351
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the pons OMIM:615181
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Neonatal respiratory distress, Asth... ORPHA:2257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Small for gestational age, Hypertension OMIM:613320
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:608629
Crome Syndrome
Cerebellar dysplasia, Short stature OMIM:218900
Young-Onset Parkinson Disease
Dystonia, Tremor, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Ischemic stroke, ST segment depression, Hypertension, Myoca... ORPHA:90065
Friedreich Ataxia
Abnormal echocardiogram, Gait ataxia, Limb ataxia, Ataxia, Congestive heart failure, Abnormal EKG... OMIM:229300
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Retinitis Pigmentosa 71
Obesity OMIM:616394
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hypocapnia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment dep... ORPHA:466650
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Plantar flexion contractures... ORPHA:2872
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Spastic paraparesis, Difficulty walking, Hypertonia... ORPHA:309854
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Akinesia, Bradykinesia, Parkinsonism, Falls, Limb dystoni... OMIM:601104
Nephronophthisis 15
Obesity OMIM:614845
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Tachypnea, Cough, Emphysema, Respiratory insufficiency, Pancytopenia... OMIM:613658
Kufor-Rakeb Syndrome
Eyelid apraxia, Lethargy, Difficulty walking, Hypertonia, Abnormal pyramidal sign, Gait disturban... ORPHA:306674
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Joubert Syndrome
Apnea, Tremor, Episodic tachypnea, Ataxia, Abnormal pattern of respiration, Abnormality of the hy... ORPHA:475
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Stiff-Person Syndrome
Agoraphobia, Hypertension, Opisthotonus, Exaggerated startle response, Tachycardia, Anxiety, Anem... OMIM:184850
Narcolepsy 7
Obesity OMIM:614250
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Falls, Parkinsonism, Rig... OMIM:609454
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis, Ataxia ORPHA:2318
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Progressive inability to walk, Falls, Hyperactivity, Ph... ORPHA:2388
Biemond Syndrome Type 2
Obesity ORPHA:141333
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Orthostatic hypotension, Syncope ORPHA:441
Biotinidase Deficiency
Apnea, Ataxia, Splenomegaly, Tachypnea, Hyperammonemia OMIM:253260
Stiff Person Spectrum Disorder
Hypothyroidism, Agoraphobia, Emotional lability, Exaggerated startle response, Anxiety, Diabetes ... ORPHA:3198
Tay-Sachs Disease
Dementia, Apathy, Psychomotor deterioration, Exaggerated startle response, Aspiration OMIM:272800
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hyperammonemia, Hyperalaninemia OMIM:615751
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Episodic tachypnea, Central apnea, Ataxia, Neonatal breathi... OMIM:213300
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Cognitive ... ORPHA:309246
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Impaired vibratory sensation, Abnormal circulating citrulline concentration, P... ORPHA:415
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Histiocytoid Cardiomyopathy
Tachypnea, Wolff-Parkinson-White syndrome, Atrial flutter, Cough, Atrial fibrillation, Ventricula... ORPHA:137675
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest, Hypotension, Emotional lability, Limb tremor, Exaggerated startl... OMIM:608643
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... ORPHA:555874
Gm2-Gangliosidosis, Ab Variant
Dementia, Chorea, Apathy, Exaggerated startle response, Aspiration OMIM:272750
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Polycythemia, Cardiomyopathy, Abnormal left... ORPHA:892
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Ataxia, Failure to thrive, Neonatal breathing dysregulation OMIM:608091
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Bronchiectasis, Recurrent pneumonia OMIM:242700
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Progressive hearing impair... ORPHA:453533
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Tip-toe gait, Right bundle branch block, Abnormal EKG ORPHA:268
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture, Respiratory distress, Failure to thrive OMIM:618201
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Laryngeal dystonia, Irritability, Anx... ORPHA:36913
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hyperactivity, Hydrocephalus, Attentio... ORPHA:8
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Postnatal growth retardation, Spastic gait... OMIM:207800
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Prolonged QT interval ORPHA:94090
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Central apnea, Neonatal respiratory distress,... ORPHA:79345
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Cerebellar hypoplasia, Postnatal growth retardation OMIM:615190
Hyperekplexia 1
Apnea, Umbilical hernia, Inguinal hernia, Exaggerated startle response, Aspiration OMIM:149400
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Failure to thrive, Tachypnea, Recurrent aspiration pneumonia ORPHA:397715
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Dysphagia, Flexion contracture, Exaggerated startle re... OMIM:617301
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Ataxia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Tay-Sachs Disease
Tremor, Dysphagia, Increased serum beta-hexosaminidase, Exaggerated startle response, Aspiration ... ORPHA:845
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Congenital Sialidosis Type 2