Gene Summary

Name:
roundabout guidance receptor 3
Synonyms:
Rig-1,  Rbig1,  Robo3b,  Robo3a,  Rig1

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
abnormal retina morphology Robo3em1(IMPC)H HET Early adult 1.97×10-11
increased circulating bilirubin level Robo3em1(IMPC)H HET Early adult 1.90×10-06
increased heart weight Robo3em1(IMPC)H HET Early adult 5.88×10-06
preweaning lethality, complete penetrance Robo3em1(IMPC)H HOM   Early adult 0.00

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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 Robo3 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 Robo3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Horizontal Gaze Palsy With Progressive Scoliosis
ORPHA:2744
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
OMIM:607313

The table below shows human diseases predicted to be associated to Robo3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Ataxia, Sensory, 1, Autosomal Dominant
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark, Babinski sign OMIM:608984
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia OMIM:618384
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... ORPHA:101010
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia ORPHA:1397
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Autosomal Recessive Spastic Paraplegia Type 27
Spastic paraplegia, Impaired vibration sensation at ankles, Babinski sign, Dysdiadochokinesis ORPHA:101007
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Ataxia OMIM:615957
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia OMIM:604432
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Ethanolaminosis
Cardiomegaly OMIM:227150
Malaria
Hyperbilirubinemia, Retinopathy, Elevated circulating C-reactive protein concentration ORPHA:673
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Spinocerebellar Ataxia 30
Ataxia OMIM:613371
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia OMIM:260970
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria OMIM:617770
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Hypertrophic cardiomyopathy, Splenomegaly OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment, Retinal detachment OMIM:614224
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia OMIM:618412
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Knee clonus, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Parki... OMIM:604187
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Gait ataxia ORPHA:404499
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Decreased nerve ... OMIM:252320
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Limb dysmetria, Babinski sign, Distal sensory impairment OMIM:600223
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Dysmetria, Babinsk... OMIM:610357
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration ORPHA:2004
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Babinski sign ORPHA:101112
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia ORPHA:2579
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia OMIM:616267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity OMIM:617691
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Increased ... OMIM:616278
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Spastic gait, Ataxia ORPHA:972
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Athetosis OMIM:615159
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Spinocerebellar Ataxia 26
Limb ataxia, Gait ataxia, Truncal ataxia, Incoordination OMIM:609306
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Biliary Atresia, Extrahepatic
Hepatomegaly, Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Hyperbilirubinemia, Atrial septal defect, Hypermethioninemia OMIM:614300
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Developmental And Epileptic Encephalopathy 24
Ataxia OMIM:615871
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Breath-Holding Spells
Cyanosis OMIM:607578
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Dysm... OMIM:616204
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin OMIM:618528
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Joubert Syndrome 27
Oculomotor apraxia, Ataxia OMIM:617120
Dystonia 9
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Choreoathetosis OMIM:601042
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Unco... ORPHA:766
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Respiratory insufficiency due to muscle weakness OMIM:618960
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Ataxia OMIM:614229
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Intention tremor, ... OMIM:133190
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia ORPHA:88637
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenome... OMIM:618892
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly OMIM:269920
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Hepatomegaly, Spleno... OMIM:616860
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Nystagmus, Hereditary Vertical
Ataxia OMIM:164150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Optic atrophy, Death in infancy, Abnormal autonomic nervous system physiology OMIM:614498
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Facial palsy, Respiratory failure,... ORPHA:98913
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Sleep apnea, Death in infancy, Abnormal autonomic nervous system physiology, Abnormal pattern of ... ORPHA:168593
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Bile Acid Synthesis Defect, Congenital, 6
Dysmetria, Slurred speech, Ataxia OMIM:617308
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Spinocerebellar Ataxia Type 17
Dystonia, Chorea, Gait disturbance, Abnormal pyramidal sign, Blepharospasm, Ataxia, Writer's cram... ORPHA:98759
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Retinal dystrophy ORPHA:713
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... OMIM:619170
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia OMIM:271250
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Progressive spastic paraplegia, Babinski sign, Ataxia OMIM:612020
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Haddad Syndrome
Central sleep apnea, Aganglionic megacolon, Death in infancy, Central hypoventilation, Abnormal a... ORPHA:99803
Hardikar Syndrome
Pigmentary retinopathy, Ventricular septal defect, Hyperbilirubinemia, Hepatomegaly, Chorioretina... OMIM:612726
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Optic atrophy, Optic disc pallor OMIM:259720
Piebald Trait With Neurologic Defects
Ataxia OMIM:172850
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Buerger Disease
Acrocyanosis ORPHA:36258
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Multiple System Atrophy
Central sleep apnea, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Sleep apnea, Abnormal autonomic nervous system physiology, Res... ORPHA:97229
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hyperbilirubinemia, Hypocholesterolemia, Splenomegaly OMIM:607765
Hypermanganesemia With Dystonia 1
Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermangan... OMIM:613280
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Double outlet right ventricle, Elevated circulating long chain fatty acid con... OMIM:614886
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Optic atrophy OMIM:261680
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Caribbean Parkinsonism
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Orthostatic hypotension ORPHA:97355
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Atrial septal defect, Right ventricular hypertrophy, Ventricular s... OMIM:208085
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoventilation, Hypercapnia, Aganglionic megacolon, Central hypoventilation, Abnormal aut... OMIM:209880
Multiple System Atrophy, Parkinsonian Type
Central sleep apnea, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:98933
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Increas... OMIM:267700
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Tricuspid Atresia
Cyanosis ORPHA:1209
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:617903
Wolcott-Rallison Syndrome
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double outlet right ventric... ORPHA:1667
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia... ORPHA:14
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:98914
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Enlarged kidney, Decreased plasma fr... OMIM:608836
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Parkinson Disease 4, Autosomal Dominant
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Multiple System Atrophy, Cerebellar Type
Central sleep apnea, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:227510
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cough, Abnormal autonomic nervous system physiology OMIM:614575
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Fumarase Deficiency
Hyperbilirubinemia, Optic atrophy OMIM:606812
Tetanus
Tachypnea, Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder ... ORPHA:3299
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly ORPHA:822
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Attrv30M Amyloidosis
Vitreous floaters, Cardiomegaly, Cardiomyopathy ORPHA:85447
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Refsum Disease, Classic
Elevated levels of phytanic acid, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Cardiom... OMIM:266500
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Progressive cerebellar ataxia, Spastic tetraplegia, Myoclonus, Spasticity OMIM:616640
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea, Hypoxemia, Cy... ORPHA:555874
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis OMIM:207950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:300908
Parkinsonism-Dystonia, Infantile, 2
Stridor, Abnormal autonomic nervous system physiology OMIM:618049
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Fatal Familial Insomnia
Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Wild Type Attr Amyloidosis
Pleural effusion, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to au... ORPHA:330001
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy ORPHA:391428
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splen... ORPHA:567983
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Car... OMIM:300257
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Pure Autonomic Failure
Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:441
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hyperbilirubinemia, Vitreous hemorrhage, Retinal hemorrhage, Hypertrop... ORPHA:464321
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Cough, Respiratory insufficiency, Cutis marmorata, Asthma, Sinusitis, Urti... ORPHA:183
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Apneic episodes in infancy, Aspiration pneumonia, A... ORPHA:35069
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Pulmonary arterial hypertension, Tachy... ORPHA:99106
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Inspiratory stridor, Pneumonia ORPHA:1136
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:3309
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic b... OMIM:169500
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hepatomegaly, Hyperuricosuria OMIM:229600
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Papilledema, Respiratory insuffic... ORPHA:2905
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology OMIM:243000
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Orthostatic hypotension OMIM:223900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect ORPHA:163979
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Al Amyloidosis
Dyspnea, Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, Nonp... ORPHA:85443
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Cranioectodermal Dysplasia 2
Atrial septal defect, Hyperbilirubinemia, Hepatomegaly, Left ventricular hypertrophy, Splenomegal... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Caroli Syndrome
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Abnormal circulating cholesterol concentration OMIM:607330
Dravet Syndrome
Cyanotic episode ORPHA:33069
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:53035
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Inherited Creutzfeldt-Jakob Disease
Abnormal autonomic nervous system physiology, Vestibular nystagmus ORPHA:282166
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neonatal hyperbilirubinemia, Double outlet right ventricle, Mitral ste... ORPHA:163956
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology ORPHA:83601
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Fabry Disease
Angiokeratoma, Airway obstruction, Abnormal autonomic nervous system physiology OMIM:301500
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis ORPHA:141127
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Unilateral Polymicrogyria
Apnea, Cyanosis, Giant somatosensory evoked potentials, Epistaxis ORPHA:268943
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Central hypoventilation, Abnormal autonomic nervous sy... ORPHA:293987
Stuve-Wiedemann Syndrome
Pulmonary arterial hypertension, Apnea, Abnormal autonomic nervous system physiology, Respiratory... OMIM:601559
Porphyria Variegata
Cutaneous photosensitivity, Abnormal autonomic nervous system physiology, Respiratory paralysis ORPHA:79473
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Familial Dysautonomia
Acrocyanosis, Optic atrophy, Orthostatic hypotension ORPHA:1764
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Optic atrophy, Cough ORPHA:137675
Tarp Syndrome
Apnea, Cyanosis, Optic atrophy ORPHA:2886
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Rett Syndrome
Abnormal autonomic nervous system physiology, Abnormal pattern of respiration ORPHA:778
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
Romano-Ward Syndrome
Abnormal autonomic nervous system physiology ORPHA:101016
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Alacrima, Achalasia, And Mental Retardation Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:615510
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Flushing, Abnormal autonomic nervous system physiology, Aspiration ORPHA:2131
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Increased DLCO, Tachypnea, C... OMIM:233450
Machado-Joseph Disease
Abnormal autonomic nervous system physiology OMIM:109150
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction ORPHA:447896
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Abnormal circulati... ORPHA:79277
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Wolfram Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Central apnea, Respiratory insuffici... ORPHA:3463
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Respiratory distress ORPHA:1051
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... OMIM:600376
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:610954
Sickle Cell Anemia
Hepatomegaly, Retinopathy, Cardiomegaly, Splenomegaly OMIM:603903
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Atrial septal defect, Rod-cone dystrophy OMIM:300896
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Abnormal autonomic nervous system physiology, Long-segment a... OMIM:609136
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Pulmonary arterial... ORPHA:221
Alexander Disease
Facial palsy, Sleep apnea, Abnormal autonomic nervous system physiology, Respiratory insufficiency ORPHA:58
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Trisomy 20P
Abnormal autonomic nervous system physiology ORPHA:261318
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology ORPHA:247234
Primary Hyperoxaluria
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic disc pallor ORPHA:416
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology ORPHA:2828
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Multiple System Atrophy 1, Susceptibility To
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:146500
Renal Nutcracker Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:71273
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Pleural effusion, Abnormal autonomic nervous system physiology ORPHA:453499