Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
homeobox B2
Synonyms:
Hox-2.8,  Hoxbes2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Hoxb2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotr... OMIM:619099
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, ... OMIM:616287
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Peripheral axonal dege... OMIM:607706
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Peripheral axonal neuropathy, Achilles tendon... ORPHA:2596
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency, ... ORPHA:238329
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Vocal cord paralysis, Tongue ... OMIM:211530
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia... OMIM:616286
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Low-... ORPHA:1532
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency, Scoli... ORPHA:640
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Limited interphalangeal movement, Frequent falls, Hand muscle wea... ORPHA:99948
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Lennox-Gastaut Syndrome
EEG abnormality, Abnormal brainstem morphology, EEG with focal sharp slow waves ORPHA:2382
20Q11.2 Microdeletion Syndrome
Abnormality of the ear, Brainstem dysplasia, Hearing impairment ORPHA:444051
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... ORPHA:99947
Perching Syndrome
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly OMIM:617055
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... OMIM:615042
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... OMIM:620011
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ... ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:158590
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture OMIM:613710
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax... ORPHA:66637
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... OMIM:300580
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
Odontochondrodysplasia 1
Respiratory distress, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of fing... OMIM:184260
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Poor coordination, Clums... OMIM:157900
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint ... OMIM:617977
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere... OMIM:303600
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... ORPHA:71277
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... OMIM:151210
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Craniorachischisis
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia ORPHA:63260
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem OMIM:615957
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, EEG with photoparoxysmal response, Atrophy/Degeneration affecting the brainstem OMIM:616230
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Median cleft lip and palate ORPHA:1832
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Optic disc pallor, Hypoplasia of the pons, Optic atrophy, Hypoplasia of the b... OMIM:608027
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... OMIM:617523
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Dumbbell-shaped long bone, Short neck, Pe... OMIM:156550
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Hypertonia, Pneumonia OMIM:254120
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears OMIM:300804
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Hemivertebrae, Abnormal rib morpholo... ORPHA:2759
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Hypertonia, Optic atrophy ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hearing impairment OMIM:613612
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Episodic Ataxia Type 1
Cerebellar atrophy, Respiratory distress, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoat... ORPHA:37612
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Scoliosis OMIM:300934
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Respiratory distress, Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Upper... OMIM:608799
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Achondroplasia
Respiratory distress, Bowing of the legs, Femoral bowing, Brain stem compression, Narrow greater ... OMIM:100800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia ORPHA:171703
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Cerebellar atrophy, Abnormal motor nerve conduction velocity... OMIM:618404
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... ORPHA:240103
Myasthenic Syndrome, Congenital, 16
Apnea, Periodic paralysis, Hyperlordosis OMIM:614198
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Cerebellar vermis hypoplasia, ... OMIM:619383
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Short long bone, Narrow chest, Flared elbow metaphyses ORPHA:1423
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Hearing impairment OMIM:617954
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... ORPHA:98755
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Respiratory distress, Inguinal hernia, Tapered finger, Flexion contracture, H... ORPHA:544503
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Abnormal b... ORPHA:163961
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Vertigo, Optic atrophy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hear... ORPHA:79279
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... OMIM:162500
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Respiratory distress, Apnea, Ataxia, Spastic tetraparesis, Chorea, Optic atro... ORPHA:79097
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:619862
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Short neck, Flexion contrac... OMIM:620369
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears OMIM:617127
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b... OMIM:271225
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ne... OMIM:183900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Rigidity, Tremor, Bradykinesia, Parkinsonism with favorable response to dop... ORPHA:240085
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long... OMIM:613848
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Cough, Spasticity, Abnormal pattern of respiration ORPHA:77260
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Sensorineural hearing impairment, ... OMIM:616192
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Kyphos... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Kyphos... ORPHA:98914
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Respiratory distress, Thoracic hypoplasia, Postaxial polydactyly, Hypopl... OMIM:617895
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, EEG with focal spike waves, Abnormal brainstem morphology, Abnormal... ORPHA:370997
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... ORPHA:370959
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... OMIM:614299
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal... OMIM:224300
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Op... OMIM:617303
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory distress, Tremor,... ORPHA:79139
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca... ORPHA:268882
Microtia-Anotia
Holoprosencephaly OMIM:600674
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Pectus carinatum, Arachn... ORPHA:536467
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... OMIM:260400
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Decreased number of pe... ORPHA:99949
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hypsarrhythmia OMIM:613477
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Bilateral sensorineural hearing impairment, Atrophy/Degeneration affecting th... ORPHA:445062
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Peripheral axonal neuropathy, Di... ORPHA:276244
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... OMIM:187600
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis OMIM:105500
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... OMIM:613561
Meier-Gorlin Syndrome 1
Respiratory distress, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fos... OMIM:224690
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... OMIM:615512
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... ORPHA:206448
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Optic atrophy, Respiratory distress, Death in childhood OMIM:615597
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... OMIM:618325
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Axonal loss, Paralysis OMIM:300857
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Optic atrophy, Contractures of the large joints, ... ORPHA:329178
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... OMIM:300219
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... ORPHA:99956
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Short neck, Hypertonia, Cerebellar hypoplasia, Adducted t... ORPHA:50810
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Reduced forced vital capacity, Vocal cord paralysis, Increa... OMIM:620161
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Speech apraxia, Abnormal medulla oblongata morphology, Incoor... ORPHA:297
Variegate Porphyria
Paralysis OMIM:176200
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Skeletal muscle atrophy, Inguinal hernia, Respiratory distress, Tetraplegia, ... OMIM:619272
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... ORPHA:98805
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis ORPHA:289916
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:3015
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br... OMIM:617180
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Tibial bowing, Femoral bowin... OMIM:616482
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Abnormal skeletal ... ORPHA:142
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy ORPHA:91130
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Optic atrophy, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclon... ORPHA:500144
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion OMIM:614741
Snakebite Envenomation
Epistaxis, Paralysis, Rhabdomyolysis, Respiratory failure, Pseudobulbar paralysis, Respiratory pa... ORPHA:449285
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory ... ORPHA:803
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination, Respiratory distress OMIM:616733
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... OMIM:114290
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n... ORPHA:3299
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... ORPHA:276241
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyperkalemic paraly... ORPHA:682
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Respiratory distress, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia ORPHA:254913
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Cleidocranial Dysplasia 1
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... OMIM:119600
Stt3B-Cdg
Cerebellar atrophy, Optic atrophy, Respiratory distress ORPHA:370924
Tetrasomy 5P
Respiratory distress, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, ... ORPHA:3309
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft OMIM:617542
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked... OMIM:619260
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Hypoplasi... OMIM:607143
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Scapular winging, Short metacarpal, Toe syndactyly, Periodic paralysis,... OMIM:170390
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Respiratory distress, Death in infancy, Myopathy, Increased variability in mu... OMIM:604377
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr... OMIM:220110
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Rocker bottom foot, Respiratory distress, Adducted thumb ORPHA:89844
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pectus carinatum, Hemiparesis, Macroglossia, Thick vermilion borde... ORPHA:363705
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormal motor nerve... ORPHA:2912
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Optic atrophy, Respiratory failure, Thin vermilion... ORPHA:2707
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... ORPHA:454836
Succinic Acidemia
Respiratory distress OMIM:600335
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decr... ORPHA:206436
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy, Choreoathetosis ORPHA:79312
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Reduced forced vita... OMIM:164310
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Low-set ears, Cerebellar dysp... ORPHA:8
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Tented upper lip vermilion, Apnea, Recurre... ORPHA:314655
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spast... OMIM:618201
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Gait ataxia OMIM:612075
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Flexion contracture,... ORPHA:505248
Osteoglophonic Dysplasia
Respiratory distress, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodac... OMIM:166250
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Asthma, Tachypnea, Wheezin... OMIM:610978
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polyda... ORPHA:2752
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Malaria
Respiratory distress ORPHA:673
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Nipah Virus Disease
Respiratory distress, Myoclonus, Tremor, Cough ORPHA:99825
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Respiratory failure, Frequ... OMIM:620166
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Fused cervical vertebrae, Broad ribs, Flaring of rib cage OMIM:612852
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexio... OMIM:618733
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, Generalized ... OMIM:139210
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, EEG with generalized slow activ... ORPHA:99027
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co... OMIM:602535
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... ORPHA:2519
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Hypoplasia of the brainstem, Abnormal auditory evoked potentials, Hearing imp... OMIM:193700
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft ve... OMIM:620076
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hearing impairment ORPHA:2720
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Chiari type I malformation, Abnormal... ORPHA:221098
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular ... ORPHA:3342
Tarp Syndrome
Cerebellar vermis hypoplasia, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypopl... OMIM:311900
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Abn... ORPHA:666
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles OMIM:619793
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia ORPHA:3240
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... ORPHA:397744
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border ORPHA:261304
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Decreased nerve conduction velocity, Respiratory i... ORPHA:600
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Short neck, Vocal cord paralysis, Tibial bowi... ORPHA:798
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislo... OMIM:300968
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Respiratory distress, Ataxia, Tremor, Flexion contracture, Recurrent pneumoni... OMIM:616271
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum... OMIM:258850
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia OMIM:160900
Scarf Syndrome
Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:3134
Andersen-Tawil Syndrome
Thin upper lip vermilion, Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 to... ORPHA:37553
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Paraparesis, Short toe, Flexion contracture, Respi... ORPHA:333
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Opisthotonus, Everted lower lip vermili... OMIM:608013
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Esophageal Atresia
Omphalocele, Respiratory distress, Vocal cord paresis, Laryngotracheomalacia, Episodic respirator... ORPHA:1199
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, ... OMIM:618188
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiple... ORPHA:2131
Joubert Syndrome 2
Agenesis of cerebellar vermis, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brains... OMIM:608091
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Facial hypotonia, Involuntary movements, Chorea, Small hand, Intrinsic hand... OMIM:615273
Stüve-Wiedemann Syndrome
Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly of finger, Me... ORPHA:3206
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Thin upper lip vermilion, Overlapping toe, Short neck, Small hand, Short fo... ORPHA:177907
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Sensorineural hearing impairment, EEG with foca... ORPHA:356961
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Respiratory distress, Abnormal cranial nerve morphology ORPHA:990
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Tarp Syndrome
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Optic atro... ORPHA:2886
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Exaggerated startle response, Tented upper lip ve... ORPHA:438216
Alkuraya-Kucinskas Syndrome
Posteriorly rotated ears, Hypoplasia of the brainstem, Kinked brainstem, Low-set ears, Cerebellar... OMIM:617822
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Everted lower lip vermilion, Short finger, Paralysis OMIM:242100
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Joubert Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:213300
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Hypertonia, Clinodactyl... OMIM:122470
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb m... ORPHA:79241
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Paraplegia ORPHA:927
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... OMIM:312830
Carnitine Deficiency, Systemic Primary
Respiratory distress, Myopathy, Reduced muscle carnitine level OMIM:212140
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Ovoid... ORPHA:3404
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Neonatal inspiratory stridor, Periodic h... ORPHA:684
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc... ORPHA:17
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Respiratory distress, Short femur, Pneumothorax, Short tibia, Limb hypertonia OMIM:620306
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... ORPHA:94080
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Abnorm... ORPHA:404448
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... ORPHA:367
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... OMIM:619476
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... ORPHA:99646
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Death in infancy, Respiratory distress, Neonatal respiratory distress, Apnea,... OMIM:618426
Mgat2-Cdg
Respiratory distress, Pectus excavatum, Kyphosis, Cerebellar hypoplasia, Scoliosis, Brachydactyly ORPHA:79329
Paget Disease Of Bone 2, Early-Onset
Brain stem compression, Bilateral conductive hearing impairment OMIM:602080
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Doors Syndrome
11 pairs of ribs, Thin upper lip vermilion, Small cerebellar cortex, Respiratory distress, Aplasi... ORPHA:79500
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Inguinal hernia, Vocal cord paresis, Ataxia, Avascular necrosis of ... ORPHA:581
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Postaxial polydactyly, Postaxial hand polydactyly, Aplasi... OMIM:617088
Arboleda-Tham Syndrome
Respiratory distress, Thin upper lip vermilion, Brachydactyly, Neonatal respiratory distress, San... OMIM:616268
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Spontaneous, recurrent epistaxis, Paralysis, Pectus excavatum, Oculom... ORPHA:2072
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal cerebellar peduncle morphology, Abnormal auditory... ORPHA:909
Choanal Atresia
Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A... ORPHA:137914
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ataxia, Segmental peripheral demyelination/remyelination, Dyspnea, Chorea, Ragged-red musc... ORPHA:255210
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Sandal gap, Small hand, Prominent fingertip pads OMIM:612863
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Oromandibular Dystonia
Respiratory distress, Torticollis, Hyperkinetic movements, Blepharospasm ORPHA:93958
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Ataxia ORPHA:79242
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Dyspnea, Patellar aplasia, Abno... ORPHA:2554
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodac... ORPHA:508488
Codas Syndrome
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... OMIM:600373
Momo Syndrome
Short neck, Thick lower lip vermilion, Femoral bowing, Short sternum, Congenital pseudoarthrosis ... ORPHA:2563
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Inhalational Botulism
Dyspnea, Paralysis ORPHA:254504
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Listeriosis
Back pain, Respiratory distress, Miscarriage, Pneumonia, Ataxia, Abnormal brainstem MRI signal in... ORPHA:533
Diamond-Blackfan Anemia 10
Respiratory distress, Supernumerary ribs, Congenital diaphragmatic hernia, Morgagni diaphragmatic... OMIM:613309
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetrapa... OMIM:203700
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Momo Syndrome
Thick lower lip vermilion, Short sternum, Short neck OMIM:157980
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Facial diplegia, Optic atrophy ORPHA:254930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Microtia, Atresia of the exte... OMIM:236670
Acute Disseminated Encephalomyelitis
Interictal EEG abnormality, Abnormal brainstem MRI signal intensity, Abnormal cerebellum morpholo... ORPHA:83597
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the... ORPHA:480880
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... ORPHA:93256
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Pulmonary arterial hypertension, Abnormal vertebral morphology, Respirator... ORPHA:210122
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Beare-Stevenson Cutis Gyrata Syndrome
Overlapping toe, Chiari malformation, Optic atrophy, Respiratory distress OMIM:123790
Leprosy
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic ... ORPHA:548
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Pleural effusion, Cough, Limb muscle weakness, Abnormal... ORPHA:1546
Rift Valley Fever
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Thumb contracture, Tapered finger, Duplication of distal phalanx of toe, Duplicati... ORPHA:324540
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Thin upper lip verm... OMIM:618371
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Contractu... ORPHA:83617
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity ORPHA:444013
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Glioblastoma
Paralysis ORPHA:360
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb OMIM:610536
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Rubinstein-Taybi Syndrome 1
Respiratory distress, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:180849
Coccidioidomycosis
Respiratory distress, Pneumonia, Cough, Abnormal long bone morphology, Abnormality of the vertebr... ORPHA:228123
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmen... OMIM:312870
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Tachypnea, Episodic respiratory distress, Slurred speech, Myoclonus, Abnorm... ORPHA:31826
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Leigh Syndrome
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Sensorineural hearing impairment, Fo... ORPHA:506
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Short sternum, Thick vermilion border, Clinodactyly of the 5th finge... OMIM:620113
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Embryonal rhabdomyosarcoma, Tetraplegia, Short sternum, Cerebellar hypoplasia, Dandy-... OMIM:257300
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Short sternum, Congenital diaphragmatic hernia OMIM:222448
Laryngeal Abductor Paralysis
Stridor, Vocal cord paralysis OMIM:150260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Optic atrophy, Poor fine motor coordination, Pu... ORPHA:79282
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Cocaine Intoxication
Respiratory distress, Involuntary movements, Tremor, Wheezing, Rhabdomyolysis, Tachypnea, Pneumot... ORPHA:90068
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Ataxia, Respirat... OMIM:256810
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Respiratory distress, Congenital hip dislocation, Block verte... OMIM:306955
Scimitar Syndrome
Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... ORPHA:185
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Shyness, Unilateral vocal cord paralysis, Short middle phalanx... OMIM:301030
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Pulmo... ORPHA:3260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Myopathy, Dyspnea OMIM:115197
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte... ORPHA:2396
Full Nf2-Related Schwannomatosis
Facial palsy, Bilateral vestibular schwannoma, Abnormal cerebellum morphology, Sensorineural hear... ORPHA:637
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology, Hearing impairment ORPHA:139396
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hearing impairment ORPHA:314621
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Crackles, Nonproductive cough, Rhinitis ORPHA:319213
Cockayne Syndrome B
Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evoked potentials, Decrea... OMIM:133540
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression, Diaphyseal sclerosis OMIM:259730
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Gait ataxia, Clinodactyly of t... OMIM:135900
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... ORPHA:68
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal brainstem morphology, Protruding ear ORPHA:464311
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Paralysis OMIM:263800
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Apnea, Ataxia, Vocal cord paralysis, Hyperkinetic move... OMIM:617799
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Mend Syndrome
Abnormal auditory evoked potentials, Dandy-Walker malformation, Low-set ears ORPHA:401973
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Asthma, Nasal flaring, Poor coordination, Short palm, Brachydactyly ORPHA:466943
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Tremor OMIM:251100
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Interstitial pneumonitis, Pneumonia ORPHA:37042
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Rhinitis, Everted lower lip vermilion, Thick v... OMIM:305100
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor OMIM:274150
Sepsis In Premature Infants
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance ORPHA:90051
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Facial palsy ORPHA:258
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Abnormal... ORPHA:805
Q Fever
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:781
Gitelman Syndrome
Respiratory distress, Rhabdomyolysis, Paralysis ORPHA:358
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Degcags Syndrome
Syndactyly, Sacral dimple, Toe syndactyly, Pneumonia, Hiatus hernia, Short thumb, Preaxial hand p... OMIM:619488
Rodrigues Blindness
Nasal flaring OMIM:268320
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Respiratory failure ORPHA:2556
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R... ORPHA:79404
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Cough ORPHA:537
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... ORPHA:99413
Turner Syndrome
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... ORPHA:881
Mosaic Monosomy X
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... ORPHA:99226
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Paralysis ORPHA:18
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stippled calcification of the shoulder, Myocardial calcification, Abnormal ... ORPHA:51608
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... ORPHA:220386
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... ORPHA:93924
Feingold Syndrome 1
Short thumb, Short toe, 4-5 toe syndactyly, Vocal cord paralysis, 2-3 toe syndactyly, Everted low... OMIM:164280
Meningioma
Papilledema, Facial palsy, Ear pain, Abnormal cerebellum morphology, Brain stem compression, Tinn... ORPHA:2495
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Cervical ribs, Congenital diaphragmatic hernia ORPHA:2255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Leptospirosis
Respiratory distress, Papilledema, Rhabdomyolysis, Cough, Pleural effusion ORPHA:509
Williams-Beuren Syndrome
Hallux valgus, Inguinal hernia, Incoordination, Down-sloping shoulders, Kyphoscoliosis, Pectus ex... OMIM:194050
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... ORPHA:97214
Aortic Arch Interruption
Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea ORPHA:2299
Pmm2-Cdg
Respiratory distress, Thin upper lip vermilion, Multiple joint contractures, Cerebellar vermis hy... ORPHA:79318
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain