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Gene: Fbxo45 MGI:2447775

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

F-box protein 45

Synonyms:

2610017J04Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Fbxo45 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.

Human diseases associated with Fbxo45 (0 diseases)
Human diseases predicted to be associated with Fbxo45 (861 diseases)

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

The table below shows human diseases predicted to be associated to Fbxo45 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho...	OMIM:611890
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Gray matter heterotopia, ...	OMIM:615411
Microlissencephaly	Thick cerebral cortex, Subcortical heterotopia, Pneumonia, Cerebral dysmyelination, Microcephaly,...	ORPHA:1083
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Abnormal vert...	OMIM:618709
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Scolios...	OMIM:611067
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Lissencephaly 3	Periventricular laminar heterotopia, Microcephaly, Polymicrogyria, Gray matter heterotopia, Lisse...	OMIM:611603
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum, Scoliosis	OMIM:617542
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Gray matter heterotopia,...	OMIM:607432
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Pachygyria, T...	ORPHA:572013
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi...	OMIM:600561
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ...	OMIM:611722
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:602099
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Hypoplasia of the...	OMIM:600638
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Respira...	ORPHA:2590
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Partial agenesis of the corpus callos...	ORPHA:300570
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Hypoplasia of the corpus callosum, Death in child...	OMIM:616081
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency	OMIM:618328
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Facial palsy, Microcephaly, Respiratory insufficiency, Respirator...	ORPHA:370968
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Optic a...	OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy, Abnormal cerebral white matter morphology,...	ORPHA:352682
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Thin corpus cal...	ORPHA:2254
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Microcephaly, Periventricular heterotopia, Partial agenesi...	OMIM:616171
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Perisyl...	OMIM:618291
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cerebral cortex, Respira...	ORPHA:168486
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal motor neuron mo...	ORPHA:52430
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Scoliosis	OMIM:607225
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi...	OMIM:614399
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Abnormal cerebral white ma...	OMIM:606612
Peripheral Cone Dystrophy	Optic disc pallor, Optic atrophy, Pallor	OMIM:609021
Hemimegalencephaly	Pachygyria, Optic atrophy, Hemimegalencephaly, Gray matter heterotopia, Hyperintensity of cerebra...	ORPHA:99802
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Lissencephaly 9 With Complex Brainstem Malformation	Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ...	OMIM:618325
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra...	OMIM:604317
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology, Neurogenic bla...	OMIM:263570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Kyphoscoliosis, Respiratory insuffi...	ORPHA:1145
Masa Syndrome	Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613954
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Facial palsy, Spinal rigidity	OMIM:604801
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Respiratory insufficiency	OMIM:617892
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Microcephaly, Short neck, Dyspnea, Respiratory failure	ORPHA:1832
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Optic atrophy, Cerebral atrophy, Respiratory failure, Aspiration p...	OMIM:619057
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Neuronal loss in the cerebral cortex, Abnormal upper moto...	ORPHA:275872
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Hypoplasia of the corpus callosum, Scoliosis	OMIM:611225
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Optic atrophy, Sco...	OMIM:617087
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death	OMIM:253310
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Facial palsy	OMIM:615348
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure	OMIM:313420
Symmetrical Thalamic Calcifications	Cerebral calcification, Abnormality of neuronal migration, Respiratory insufficiency, Microcephaly	ORPHA:1314
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Syri...	OMIM:207950
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Abnormality o...	OMIM:276950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Pallor	ORPHA:2786
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Familial Focal Epilepsy With Variable Foci	Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly	ORPHA:98820
Hyperekplexia 4	Cerebral atrophy, Respiratory failure, Kyphoscoliosis	OMIM:618011
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Optic atrophy, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Hy...	OMIM:615330
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g...	OMIM:312170
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105550
Congenital Muscular Dystrophy Without Intellectual Disability	Kyphoscoliosis, Microcephaly, Abnormal cerebral white matter morphology, Facial diplegia, Gray ma...	ORPHA:370980
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Microcephaly, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Neonatal d...	OMIM:610127
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Microcephaly	OMIM:225753
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Thin corpus callosum	OMIM:616277
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Megalencephaly, Kyphos...	OMIM:616482
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior horn cells, Respiratory ...	OMIM:604320
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:606070
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal mi...	ORPHA:89844
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Res...	OMIM:245400
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Respiratory insufficiency, Abnormal form of the vertebral...	ORPHA:93941
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Abnormality of neuronal migration, Microcephaly	ORPHA:1980
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Thanatophoric Dysplasia Type 2	Encephalocele, Redundant skin, Kyphosis, Hydrocephalus, Abnormality of neuronal migration, Respir...	ORPHA:93274
Leber Congenital Amaurosis 14	Optic disc pallor, Pallor	OMIM:613341
Acute Myelomonocytic Leukemia	Dyspnea, Pallor, Eosinophilia	ORPHA:517
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Cerebral atrophy	OMIM:618637
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Respiratory insufficiency, Scoliosis	OMIM:617404
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Lissencephaly 6 With Microcephaly	Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616212
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy, Pallor	OMIM:612989
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Myelitis	ORPHA:71211
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis	ORPHA:75840
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Microcephaly, Head titubat...	OMIM:205100
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Facial palsy, Restrictive ventilatory...	ORPHA:98913
Kcnq2-Related Epileptic Encephalopathy	Apnea, Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral ...	ORPHA:439218
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelopathy, Bradypnea, R...	OMIM:617186
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor	OMIM:613561
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Short neck, Fused cervical verteb...	OMIM:609053
Glutathionuria	Gray matter heterotopia, Asthma, Agenesis of corpus callosum	OMIM:231950
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Microcephaly, Spinal rigidity, Kyphosis, Dyspnea, Respiratory ins...	ORPHA:352447
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration, Aplasia/Hypoplasia of the corpus callosum	ORPHA:29822
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Alg1-Cdg	Kyphosis, Cerebral atrophy, Respiratory failure, Scoliosis, Progressive microcephaly	ORPHA:79327
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea...	OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity	OMIM:618323
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure	OMIM:616867
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Thin corpus callosum	OMIM:620326
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Microcephaly, Respiratory insufficiency, Facial dipleg...	OMIM:618186
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Aganglionic megacolon, Hydrocephalus, Abnormality of ne...	ORPHA:475
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus callosum...	OMIM:616756
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal...	OMIM:615838
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Pallor, Scoliosis	ORPHA:536516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Agyria, Subcortical heterotopia, Optic nerve hypoplasia, Partial...	OMIM:614643
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Microcephaly, Diffuse whit...	ORPHA:370959
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperint...	OMIM:256000
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, Death in ch...	OMIM:614922
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Dystonia 31	Abnormal posturing	OMIM:619565
Thanatophoric Dysplasia	Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff...	ORPHA:2655
Intermediate Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171433
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy	OMIM:618240
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Respiratory failure, Neonatal d...	OMIM:605711
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:612069
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Respiratory failure	OMIM:618233
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Periventricular cysts, Hypoplasia of the corpus callosum, Short corp...	ORPHA:255138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Hydrocephalus, Respiratory failure, Hypoplasia of the corpus callosum, Po...	OMIM:616538
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the co...	OMIM:164180
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Kyphosis, Optic atrophy	OMIM:618237
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Ck Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Pachygyria, Polymicrogyria	OMIM:300831
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology	ORPHA:70472
Fetal Akinesia Deformation Sequence 4	Neonatal death, Kyphosis, Prenatal death, Short neck	OMIM:618393
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Op...	ORPHA:899
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Basal ganglia calcification, Respiratory failure, Optic atrophy, Scoliosis	OMIM:616505
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly	OMIM:236795
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormal periventricular white matter morphology, Pachygyria, Facial palsy, Abnormality of neuron...	OMIM:608840
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Polymicrogyria, Microcephaly	OMIM:610678
Hypomelanosis Of Ito	Microcephaly, Kyphosis, Cerebral atrophy, Gray matter heterotopia, Scoliosis	OMIM:300337
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis, Microcephaly	OMIM:300434
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern, Cerebral atrophy, Leuk...	OMIM:619244
Leber Congenital Amaurosis	Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration	ORPHA:65
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Substantia nigra gliosis, Degeneratio...	ORPHA:276244
Hemoglobin D Disease	Pallor	ORPHA:90039
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Basal ganglia calci...	OMIM:135100
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough	ORPHA:99931
Joubert Syndrome With Oculorenal Defect	Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Tachypnea, Abnormality of neuronal mi...	ORPHA:2318
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Pallor	ORPHA:49827
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Kyphosis, Scoliosis	ORPHA:101075
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front...	ORPHA:100070
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Eye of the tiger anomaly of globus pallidus, Cough, Aspiration pneumonia, Abno...	ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Short neck, Hydrocephalus, Gray matter heterotopia, Platyspondyly,...	OMIM:187600
Breath-Holding Spells	Pallor	OMIM:607578
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus callosum, Hypoplasia of...	OMIM:603387
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology	OMIM:618512
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Decreased motor nerve c...	ORPHA:79139
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Abnormal sperm motility, Productive cough, Hydrocephalus, Wheezing...	ORPHA:244
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Stridor, Respiratory failure, Scoliosis, Interco...	OMIM:606071
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Tituba...	ORPHA:280210
Fumarase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Lissencephaly, Pallor, Polymicrogyria, Agenesis of...	OMIM:606812
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ...	ORPHA:2759
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Syringomyelia, Abnormality of neuronal migration	ORPHA:2481
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Restrictive ventilatory defect, Microcephaly, Pallor, Hyperlordosis	OMIM:600462
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1895
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Microcephaly, Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of...	OMIM:616975
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C...	ORPHA:1194
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens...	ORPHA:98755
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Recurrent pneumonia, Opti...	ORPHA:496641
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral calcification, Microcephaly, Respiratory insufficie...	OMIM:617397
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Cdkl5-Deficiency Disorder	Kyphosis, Abnormal respiratory system physiology, Scoliosis	ORPHA:505652
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pallor	ORPHA:163596
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Cyclic Vomiting Syndrome	Pallor, Microcephaly	OMIM:500007
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Facial palsy, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hyper...	ORPHA:258
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Corpus callosum atrophy	OMIM:601162
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Respiratory failure, Lateral ventricle dilatation, Death in child...	OMIM:619847
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Microcephaly, Spinal rigidity, Kyphosis, Dyspnea, R...	OMIM:615084
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Respiratory failure, Cerebral atrophy	ORPHA:363400
9Q21.13 Microdeletion Syndrome	Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Vertebral segmentation defect...	ORPHA:531151
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal sten...	OMIM:301900
Thanatophoric Dysplasia Type 1	Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff...	ORPHA:1860
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Kyphosis, Scoliosis	ORPHA:101078
Dystonia 1, Torsion, Autosomal Dominant	Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnormal posturing	OMIM:128100
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Restrictive ventilatory defect, Scoliosis, Hyperlordosis	OMIM:615290
Evans Syndrome	Dyspnea, Pallor, Epistaxis, Petechiae	ORPHA:1959
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Death in childhood, Abnormal cerebral white matter morphology, Pallor, Microcephaly	OMIM:246450
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Hydrocep...	OMIM:618476
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis	OMIM:620249
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Congenital Heart Block	Pleural effusion, Pallor, Crackles	ORPHA:60041
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Thin corpus callosum, Hypoplasia of the corpus callosum, Abnormality of ...	OMIM:300049
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ...	ORPHA:2635
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Beta-Thalassemia	Skin ulcer, Pallor, Respiratory insufficiency	ORPHA:848
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Respiratory failu...	ORPHA:3240
Periventricular Nodular Heterotopia 7	Optic disc pallor, Cortical dysplasia, Gray matter heterotopia, Hypoplasia of the corpus callosum...	OMIM:617201
Rheumatic Fever	Sinusitis, Epistaxis, Erythema, Respiratory insufficiency, Pallor, Hemiballismus	ORPHA:3099
Sjögren-Larsson Syndrome	Microcephaly, Kyphosis, Erythema, Scoliosis, Dry skin	ORPHA:816
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Cerebral calcification, Hydrocephalus, Abnormality of neuronal mig...	ORPHA:157
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Non-Functioning Paraganglioma	Cranial nerve compression, Pallor	ORPHA:94080
Sandestig-Stefanova Syndrome	Primary microcephaly, Respiratory failure, Hypoplasia of the corpus callosum, Short neck	OMIM:618804
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial palsy, Pneumonia, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai...	ORPHA:98905
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Scoliosis, Abnormality of the cervical spine, Cerebral cortical atrophy, Abnormality of...	ORPHA:48431
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency, Microcephaly	OMIM:609981
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnormal cortical gyration, Micro...	ORPHA:2671
Snakebite Envenomation	Epistaxis, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Winchester Syndrome	Kyphosis	OMIM:277950
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Petechiae, Purpura	OMIM:620296
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Progressive microcephaly	OMIM:620007
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Cortical dysplasia, Simplified gyral pattern, Abnormal cerebral white matter morphology...	OMIM:300354
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Microcephaly, Diffuse white matter abnormalities, Hydrocephalus,...	OMIM:259720
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Death in infancy	ORPHA:1354
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Microcephaly, Fused cervical vertebrae	ORPHA:2522
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
3C Syndrome	Death in infancy, Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Optic atrophy, Abnormality ...	ORPHA:7
American Trypanosomiasis	Dyspnea, Aganglionic megacolon, Pallor, Cough	ORPHA:3386
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Huntington Disease-Like 1	Abnormal posturing, Cerebral cortical atrophy, Abnormal basal ganglia morphology	ORPHA:157941
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis	ORPHA:178148
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory fai...	ORPHA:26791
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Pallor	ORPHA:3226
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ab...	ORPHA:35107
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep...	OMIM:220110
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Kyphosis, Cerebral atrophy, Scoliosis, Thin corpus callosum	OMIM:619797
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Kyphosis,...	OMIM:211530
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Vici Syndrome	Death in infancy, Optic atrophy, Gray matter heterotopia, Agenesis of corpus callosum, Cerebral c...	ORPHA:1493
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Microcephaly, Kyphosis, Meningocele, Abnorma...	ORPHA:2311
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Abnormal posturing, Tachypnea, Cerebral atrophy	OMIM:614857
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Absent septum pellucidum, Cortical dysplasi...	OMIM:615287
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Neurogenic bladder, Cerebral cortical atrophy	OMIM:615911
Aicardi Syndrome	Block vertebrae, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum, Recurrent p...	OMIM:304050
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, Scoliosis,...	OMIM:619833
Tetrasomy 18P	Abnormality of neuronal migration, Scoliosis, Microcephaly	ORPHA:3307
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Leishmaniasis	Rhinitis, Pallor, Skin ulcer	ORPHA:507
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis	OMIM:610743
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Spinal canal stenosis, Ce...	ORPHA:1320
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Secondary microcephaly, Pallor, Cerebral atrophy	OMIM:613839
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Microcephalic Primordial Dwarfism, Montreal Type	Microcephaly, Kyphosis, Vertebral segmentation defect, Scoliosis, Dry skin	ORPHA:2617
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Kyphosis, Optic atrophy, Scoliosis	ORPHA:99014
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Optic atrophy, Abnormality of neuronal migration, Scoliosis, Cerebral cortical atrophy	ORPHA:2518
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Cortical dysplasia, Microcephaly	ORPHA:319199
Myopathy, Centronuclear, 2	Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis	OMIM:255200
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure	ORPHA:2707
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Stridor, Paroxysmal dyspnea, Respiratory failure	ORPHA:444013
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Neonatal respiratory distre...	ORPHA:228308
Beta-Thalassemia Intermedia	Spinal cord compression, Pulmonary arterial hypertension, Pallor, Skin ulcer	ORPHA:231222
Dravet Syndrome	Pallor	ORPHA:33069
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P...	ORPHA:209905
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Intermittent hyperventilation, Abnormality of neuronal migration, A...	ORPHA:163681
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
4Q21 Microdeletion Syndrome	Kyphosis, Agenesis of corpus callosum, Scoliosis, Short neck	ORPHA:238750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Kyphosis, Abnormal cerebral white matter morphology	OMIM:618138
Coffin-Lowry Syndrome	Death in early adulthood, Redundant skin, Microcephaly, Kyphosis, Optic atrophy, Abnormality of n...	ORPHA:192
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Abnormal sensory nerve conduction ...	ORPHA:88628
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis, Microcephaly	ORPHA:2598
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Abnormal cerebral white matter mor...	ORPHA:280071
Sandhoff Disease	Kyphosis	ORPHA:796
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Microcep...	OMIM:314580
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningo...	OMIM:130720
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Apnea, Hydrocephalus, Optic disc coloboma, Abnormality of neuronal migra...	ORPHA:1454
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Optic atrophy, Pallor, Cough, Agenesis of corpus callosum	ORPHA:137675
Radio-Tartaglia Syndrome	Microcephaly, Gray matter heterotopia, Scoliosis, Dry skin, Agenesis of corpus callosum, Striae d...	OMIM:619312
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Hydrocephalus, Asthma, Recurrent pneumonia, Cervical cord comp...	OMIM:309900
Glycine Encephalopathy With Normal Serum Glycine	Apnea, Microcephaly, Optic atrophy, Respiratory failure, Hypoplasia of the corpus callosum	OMIM:617301
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye...	OMIM:253010
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Cerebral calcification, Spina bifida, Microcepha...	ORPHA:1393
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Thin corpus callosum, Microcephaly	OMIM:619694
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:464282
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, Scoliosis	ORPHA:2181
Baralle-Macken Syndrome	Kyphosis, Striae distensae, Microcephaly	OMIM:619255
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Thoracic kyphosis, Aspiration pneumonia, Cervical cord compression, De...	OMIM:602535
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In...	ORPHA:330021
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90037
Crisponi Syndrome	Kyphosis, Respiratory insufficiency, Scoliosis, Death in infancy	ORPHA:1545
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpu...	OMIM:618797
Fountain Syndrome	Spina bifida, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida ...	ORPHA:3219
Hall-Riggs Syndrome	Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis	OMIM:234250
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Kleefstra Syndrome 2	Kyphosis, Scoliosis, Microcephaly	OMIM:617768
Cold Agglutinin Disease	Back pain, Pallor	ORPHA:56425
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Lewy bodies, Optic atrophy, Eye of the tiger anomaly of g...	OMIM:614298
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Lopes-Maciel-Rodan Syndrome	Kyphosis, Caudate atrophy, Scoliosis, Cerebral atrophy	OMIM:617435
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Thick corpus callosum, Periventricular heterotopia	OMIM:618273
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90036
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Lewy bodies	OMIM:619133
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Hypoplasia of the corpus callosum, Scoliosis, Cerebral atrophy	OMIM:614409
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor nerve con...	ORPHA:2912
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Secondary microcephaly, Scoliosis, Abnormal ...	ORPHA:3095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis	OMIM:619132
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Cerebral cortical atrophy, Dysgyria	OMIM:620327
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Periventricular heterotopia, Cortical dy...	ORPHA:468631
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Restrictive ventilatory defect	OMIM:618484
Riddle Syndrome	Pneumonia, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Erythema, Abnormal cerebral whit...	ORPHA:420741
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Sacral dimple, Abnormal cortical gyration, Exencephaly, Macrogyria, Abnormality of...	ORPHA:2211
Ane Syndrome	Motor neuron atrophy, Kyphoscoliosis, Microcephaly	ORPHA:157954
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Respiratory failure, Primary m...	ORPHA:445038
Alexander Disease	Cerebral calcification, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Megalencephaly, Aquedu...	ORPHA:58
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, P...	ORPHA:90051
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Microcephaly, Aqueductal stenosis, Abnormality of neuron...	ORPHA:2065
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis, Microcephaly	OMIM:615834
Severe Congenital Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171430
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Fa...	ORPHA:171436
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis, Microcephaly	ORPHA:352490
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficien...	OMIM:607625
Flynn-Aird Syndrome	Cerebral calcification, Kyphosis, Skin ulcer, Scoliosis, Cerebral cortical atrophy	ORPHA:2047
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria, ...	OMIM:619775
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Hypoxemia, Restrictive vent...	ORPHA:15
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Scapuloperoneal Spinal Muscular Atrophy	Facial palsy, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis	OMIM:181405
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory...	OMIM:615636
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Microcephaly	OMIM:300957
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:2772
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Normal pressure hydroce...	OMIM:620351
Pelizaeus-Merzbacher Disease	Microcephaly, Kyphosis, Optic atrophy, Respiratory insufficiency, Scoliosis, Cerebral cortical at...	ORPHA:702
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Upper airway obstructio...	OMIM:603671
Diastrophic Dysplasia	Cerebral calcification, Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficienc...	ORPHA:628
Basilar Impression, Primary	Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram	OMIM:109500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Holoprosencephaly	Encephalocele, Short neck, Microcephaly, Hydrocephalus, Optic atrophy, Spinal cord tumor, Abnorma...	ORPHA:2162
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Dural ec...	ORPHA:2789
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Absent septum pellucidum, Hyperlordosis, Periventricular heterotop...	OMIM:618870
S-Adenosylhomocysteine Hydrolase Deficiency	Hyperintensity of cerebral white matter on MRI, Respiratory failure, Hypoplasia of the corpus cal...	ORPHA:88618
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of ce...	ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Microcephaly, Focal T2 hypointense ...	OMIM:252010
Ullrich Congenital Muscular Dystrophy 1	Facial palsy, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respir...	OMIM:254090
Joubert Syndrome 30	Gray matter heterotopia, Tachypnea, Apnea	OMIM:617622
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Incontinentia Pigmenti	Eosinophilia, Kyphoscoliosis, Microcephaly, Erythema, Optic atrophy, Hemivertebrae, Pallor	OMIM:308300
Hemifacial Atrophy, Progressive	Kyphosis, Horner syndrome	OMIM:141300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:614105
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Arthrogryposis, Distal, Type 5	Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory defect, Scolios...	OMIM:108145
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Dry skin, Hyperlordosis	ORPHA:3085
Bohring-Opitz Syndrome	Neonatal respiratory distress, Sacral dimple, Microcephaly, Cutis laxa, Gray matter heterotopia, ...	OMIM:605039
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, S...	OMIM:616449
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microcephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Pallor, Pa...	OMIM:253280
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Aspiratio...	OMIM:618733
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the corpus callo...	ORPHA:314679
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis	OMIM:617143
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Optic atrophy, Secondary microcephaly, Respiratory insufficiency	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator...	OMIM:610505
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Agenesis of corpus callosum, Scoliosis, Microcephaly	ORPHA:261144
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted...	ORPHA:308552
Juvenile Amyotrophic Lateral Sclerosis	Head titubation, Amyotrophic lateral sclerosis, Scoliosis, Microcephaly	ORPHA:300605
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Abnormal periventricular white matter morphology	OMIM:615960
Hereditary Folate Malabsorption	Pallor, Cerebral calcification, Eosinophilia	ORPHA:90045
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory...	OMIM:607155
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Abnormality of neuronal migration, Microcephaly	ORPHA:261236
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai...	ORPHA:3015
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Absent septum pellucidum, Short neck, Microcephaly, Abnormal cerebral white mat...	OMIM:300868
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Dysplastic corpus callosum, Hemiver...	ORPHA:500150
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Exertional dyspnea	ORPHA:90033
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration, Amyotrophic lateral sclerosis, Decr...	ORPHA:600
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Split Cord Malformation	Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Myelo...	ORPHA:573278
Myopathy, Mitochondrial, And Ataxia	Pallor, Scoliosis	OMIM:617675
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Cerebral atrophy, Hypopnea, Respiratory failure, Secondary microcephaly,...	OMIM:617248
Micro Syndrome	Microcephaly, Kyphosis, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, ...	ORPHA:2510
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Waldenström Macroglobulinemia	Epistaxis, Respiratory insufficiency, Pallor, Pleural effusion, Purpura	ORPHA:33226
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Lissencephaly,...	OMIM:617822
Holoprosencephaly 14	Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag...	OMIM:619895
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Periventricular heter...	ORPHA:261552
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebral calcification, Microcephaly, Leukoencephalopathy, Gray matter he...	OMIM:620024
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cranial nerve compression, Pallor	ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Microcephaly, Tachypnea, Leukoencephalopathy, Pallor	ORPHA:20
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Partial agenesis of the corpus callosum, Microlissencephaly, Death in childhood, Pach...	OMIM:210710
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Periventricular heterotopia	OMIM:618974
Sialidosis Type 2	Dyspnea, Kyphosis	ORPHA:87876
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Abnormal cortical gyration, Kyphosis, Cessation of head growth, Optic atrophy, Respiratory...	OMIM:617527
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Miscarriage, Kyphoscoliosis, Short neck, Microcephaly, Hemivertebrae, Spinal...	ORPHA:96334
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Van Maldergem Syndrome 1	Sacral dimple, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, S...	OMIM:601390
Arterial Tortuosity Syndrome	Respiratory distress, Redundant skin, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Sco...	ORPHA:3342
Unilateral Polymicrogyria	Apnea, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Abnormal posturin...	ORPHA:268943
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Respiratory insufficiency, Scoliosis, Short neck	ORPHA:3191
Irida Syndrome	Pallor	ORPHA:209981
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Apnea, Abnormal cortical gyration, Microcephaly, Kyphosis, Optic a...	ORPHA:521426
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Optic atrophy, Hyperintensity ...	OMIM:619708
Beta-Ketothiolase Deficiency	Tachypnea, Pallor, Cough	ORPHA:134
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn...	ORPHA:79138
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Kyphosis, Colpocephaly, Hypoplasia of the co...	ORPHA:261250
Childhood Absence Epilepsy	Pallor, Hyperventilation	ORPHA:64280
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Microcephaly, Kyphosis, Hydrocephalus, Asthma, Hypoplasia of the c...	ORPHA:500055
6Q Terminal Deletion Syndrome	Short neck, Abnormal cerebral cortex morphology, Periventricular heterotopia, Abnormality of neur...	ORPHA:75857
Emanuel Syndrome	Sacral dimple, Microcephaly, Kyphosis, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus ...	OMIM:609029
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Vici Syndrome	Schizencephaly, Microcephaly, Gray matter heterotopia, Abnormal posturing, Agenesis of corpus cal...	OMIM:242840
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer...	OMIM:177170
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respiratory insufficiency due to muscle weakness, Hyp...	ORPHA:2020
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Letterer-Siwe Disease	Dyspnea, Pallor	OMIM:246400
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Microcephaly, Kyphosis, Perisylvian polymicrogyria, Cereb...	OMIM:618443
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Pallor, Abnormal autonomic nervous system physiology, Aspiration	ORPHA:2131
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Gray matter heterotopia, Vertebral segmentation defect, Syringomyelia, Abnormal aut...	ORPHA:453499
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephal...	ORPHA:2556
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Microcephaly	ORPHA:77300
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele, Optic atrophy, Abnormal...	ORPHA:991
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Bruck Syndrome	Kyphosis, Platyspondyly, Respiratory insufficiency, Scoliosis	ORPHA:2771
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Fragile X Syndrome	Scoliosis, Periventricular heterotopia	OMIM:300624
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Jaberi-Elahi Syndrome	Microcephaly, Kyphosis, Globus pallidus hypointensity on susceptibility-weighted imaging, Optic a...	OMIM:617988
Autosomal Recessive Malignant Osteopetrosis	Apnea, Hydrocephalus, Pallor, Chronic rhinitis, Pulmonary arterial hypertension, Optic nerve comp...	ORPHA:667
Myelofibrosis	Pallor, Purpura	OMIM:254450
Diamond-Blackfan Anemia 1	Short neck, Microcephaly, Hypoplastic sacral vertebrae, Bifid thoracic vertebrae, Hypoplastic coc...	OMIM:105650
Trisomy 20P	Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation...	ORPHA:261318
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Facial wrinkling, Short neck, Partial agenesis of the corpus...	OMIM:305450
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Marden-Walker Syndrome	Microcephaly, Short neck, Kyphosis, Scoliosis, Agenesis of corpus callosum	OMIM:248700
Man1B1-Cdg	Periventricular heterotopia, Cutis laxa, Short neck	ORPHA:397941
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Microcephaly, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Rhizomelic Syndrome, Urbach Type	Kyphosis, Microcephaly, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Dominant Beta-Thalassemia	Dyspnea, Pallor, Skin ulcer	ORPHA:231226
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Neonatal respiratory distress, Redundant neck skin, Aplasia/Hypoplasia of the ...	OMIM:214100
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Costello Syndrome	Redundant neck skin, Short neck, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Cerebral...	OMIM:218040
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Gray matter heterotopia, Co...	OMIM:618820
15Q24 Microdeletion Syndrome	Kyphosis, Myelomeningocele, Scoliosis, Microcephaly	ORPHA:94065
Distal Triplication 15Q	Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis	ORPHA:314588
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Microcephaly, Kyphosis, Gray matter heterotopia, Scoliosis, Hypo...	OMIM:610443
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Microcephaly, Short neck, Kyphosis, Scoliosis	OMIM:301041
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus cal...	OMIM:247200
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Microcephaly	OMIM:180870
Rett Syndrome, Congenital Variant	Kyphosis, Simplified gyral pattern, Hypoplasia of the corpus callosum, Scoliosis, Aspiration, Pac...	OMIM:613454
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Hereditary Pheochromocytoma-Paraganglioma	Cranial nerve compression, Pallor	ORPHA:29072
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Gm1 Gangliosidosis	Hyperlordosis, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Abnormal cerebral ...	ORPHA:354
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to...	ORPHA:98863
Aregenerative Anemia	Dyspnea, Pallor	ORPHA:101096
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor, Eosinophilia	ORPHA:331206
Periventricular Nodular Heterotopia	Scoliosis, Periventricular heterotopia	ORPHA:98892
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, L...	ORPHA:464738
Cono-Spondylar Dysplasia	Kyphosis, Partial agenesis of the corpus callosum, Scoliosis, Short neck	ORPHA:420794
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Sialidosis Type 1	Decreased nerve conduction velocity, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Respiratory failure, Hypoplasia of the corpus callosum, Dea...	OMIM:618278
Desbuquois Dysplasia 1	Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Fanconi Anemia, Complementation Group D2	Anemic pallor, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:227646
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Optic atrophy, Optic disc pallor, Scoliosis	OMIM:609541
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:300280
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Otopalatodigital Syndrome, Type Ii	Spina bifida, Kyphoscoliosis, Short neck, Hydrocephalus, Respiratory insufficiency, Platyspondyly...	OMIM:304120
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Pituitary Apoplexy	Abnormal caudate nucleus morphology, Pallor	ORPHA:95613
Rett Syndrome	Apnea, Intermittent hyperventilation, Kyphosis, Secondary microcephaly, Scoliosis, Cerebral corti...	OMIM:312750
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Pallor, Cough, Pleural e...	ORPHA:3260
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy...	ORPHA:340
Postencephalitic Parkinsonism	Abnormal substantia nigra morphology, Camptocormia, Kyphosis, Abnormal respiratory system physiol...	ORPHA:97349
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Degcags Syndrome	Sacral dimple, Pneumonia, Microcephaly, Asthma, Rhinitis, Pallor, Tracheomalacia, Pulmonary arter...	OMIM:619488
Sheehan Syndrome	Orthostatic hypotension, Dry skin, Pallor	ORPHA:91355
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Beta-Thalassemia Major	Dyspnea, Pallor, Skin ulcer	ORPHA:231214
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Pallor	OMIM:616959
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:98853
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Smith-Mccort Dysplasia 1	Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability,...	OMIM:607326
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Microcephaly, Tachypnea, Cerebral atrophy, Respiratory insufficiency, Res...	OMIM:613658
Fontaine Progeroid Syndrome	Death in infancy, Redundant skin, Microcephaly, Periventricular heterotopia, Hydrocephalus, Pneum...	OMIM:612289
Gm1-Gangliosidosis, Type I	Death in infancy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cerebral degener...	OMIM:230500
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Nijmegen Breakage Syndrome	Microcephaly, Short neck, Recurrent pneumonia, Abnormality of neuronal migration, Respiratory fai...	ORPHA:647
Genitopalatocardiac Syndrome	Kyphosis, Hydrocephalus, Scoliosis, Microcephaly	ORPHA:2075
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Microcephaly, Short neck	OMIM:608776
Van Maldergem Syndrome 2	Sacral dimple, Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the corpus ca...	OMIM:615546
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Microcephaly, Kyphosis, Abnormality of neuronal migration, Hypoplasia of the c...	ORPHA:464311
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Redundant neck skin	ORPHA:254528
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Refractory Anemia With Excess Blasts	Anemic pallor, Exertional dyspnea	ORPHA:86839
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Microcephaly, Kyphosis, Recurrent pneumonia, Optic atrophy, Scoliosis	OMIM:618493
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor, Eosinophilia	ORPHA:98849
Koolen-De Vries Syndrome	Vertebral fusion, Microcephaly, Kyphosis, Aplasia/Hypoplasia of the corpus callosum, Vertebral se...	ORPHA:96169
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hydrocephalus, Dural ectasia	OMIM:616914
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Malignant Atrophic Papulosis	Pleural effusion, Ischemic stroke, Respiratory failure	ORPHA:679
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Pallor, Ganglioneuromatosis	ORPHA:653
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Cole-Carpenter Syndrome	Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Trisomy 13	Kyphosis, Optic atrophy, Scoliosis	ORPHA:3378
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Lack of skin elasticity, Scoliosis	OMIM:615381
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, Hydrocephalus	OMIM:616294
Trisomy 9P	Sacral dimple, Microcephaly, Short neck, Kyphosis, Scoliosis	ORPHA:236
Schaaf-Yang Syndrome	Kyphosis, Scoliosis	OMIM:615547
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Death in early adulthood, Scoliosis	ORPHA:79107
19P13.12 Microdeletion Syndrome	Microcephaly, Short neck, Kyphosis, Hypoplasia of the corpus callosum, Scoliosis	ORPHA:254346
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Microcephaly	ORPHA:3121
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Facial erythema, Biconcave vertebral bodies, Ecchymosis, Vertebral compression fracture...	OMIM:219090
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Microcephaly, Kyphosis, Optic atrophy, Abnormal form of the vertebr...	ORPHA:280
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Spina bifida, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Optic atrophy,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Spina bifida, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Optic atrophy,...	ORPHA:363958
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis, Microcephaly	OMIM:248800
Myhre Syndrome	Vertebral fusion, Microcephaly, Short neck, Respiratory insufficiency, Enlarged vertebral pedicle...	OMIM:139210
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Reduced cerebral white matter volume, Scoliosis	OMIM:617190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Hydrocephalus, Scoliosis	OMIM:619951
Elliptocytosis 1	Pallor	OMIM:611804
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Bilateral Perisylvian Polymicrogyria	Apnea, Microcephaly, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal mig...	ORPHA:98889
Microphthalmia, Lenz Type	Microcephaly, Hyperlordosis, Kyphosis, Optic disc coloboma, Aplasia/Hypoplasia of the corpus call...	ORPHA:568
Prolactinoma	Pallor	ORPHA:2965
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Hypoplasia of the corpus callosum, Scoliosis	ORPHA:364028
Listeriosis	Back pain, Respiratory distress, Miscarriage, Pneumonia, Respiratory failure	ORPHA:533
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Noonan Syndrome 14	Kyphosis, Lateral ventricle dilatation, Dry skin, Short neck	OMIM:619745
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon	ORPHA:261222
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Pneumonia, Kyphosis, Platyspondyly...	ORPHA:1855
Pycnodysostosis	Cerebral dysmyelination, Hyperlordosis, Kyphosis, Stridor, Spondylolysis, Scoliosis, Spondylolist...	ORPHA:763
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Vertebral segmentation defect, Hyp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Vertebral segmentation defect, Hyp...	ORPHA:352665
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Respiratory insufficiency	OMIM:619909
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood	OMIM:557000
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Abetalipoproteinemia	Respiratory failure, Kyphoscoliosis	ORPHA:14
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Tuberous Sclerosis Complex	Respiratory distress, Cortical dysplasia, Noncommunicating hydrocephalus, Respiratory failure, Co...	ORPHA:805
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2754
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Skin ulcer, Syringomyelia,...	ORPHA:955
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Scoliosis, Microcephaly	OMIM:617061
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Facial palsy, Redundant skin, Kyphosis, Hydrocephalus, Scoliosis, Agene...	ORPHA:2658
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Dysostosis, Stanescu Type	Cerebral calcification, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Scoliosis	ORPHA:1798
Bloom Syndrome	Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure	ORPHA:125
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Hyperlordosis, Kyphosis, Thick corpus callosum, Scol...	OMIM:617011
Harrod Syndrome	Kyphosis, Cerebral cortical atrophy, Scoliosis, Microcephaly	ORPHA:2115
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Cockayne Syndrome Type 2	Kyphosis, Subcortical white matter calcifications, Scoliosis	ORPHA:90322
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis, Microcephaly	ORPHA:261190
Cockayne Syndrome B	Abnormal auditory evoked potentials, Microcephaly, Decreased nerve conduction velocity, Kyphosis,...	OMIM:133540
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Biconcave vertebral bodi...	OMIM:607014
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Cerebral atrophy, Death in childhood	OMIM:618252
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis, Abnormal cerebral white matter morphology	ORPHA:88644
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Microcephaly, Periventricular heterotopia, Partial agenesis of the corpu...	OMIM:615948
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T...	ORPHA:140
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Pla...	OMIM:223800
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Facial palsy, Microcephaly, Kyphosis, Optic atrophy, Scoliosis	ORPHA:261349
Weaver Syndrome	Absent septum pellucidum, Kyphosis, Cutis laxa, Lateral ventricle dilatation, Scoliosis	OMIM:277590
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Abnormality of neuronal migration, Holoprosencephaly, Microcephaly	ORPHA:3186
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Von Hippel-Lindau Disease	Back pain, Papilledema, Pallor	ORPHA:892
Fanconi Anemia, Complementation Group C	Anemic pallor, Anterior wedging of T12, Microcephaly	OMIM:227645
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Apnea	OMIM:617563
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2554
Infection-Related Hemolytic Uremic Syndrome	Dyspnea, Pallor, Pleural empyema, Pneumonia	ORPHA:544482
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Microcephaly, Short neck,...	ORPHA:2636
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Kyphosis, Hydrocephalus, Abnormal form of the vertebral b...	ORPHA:2461
Schwartz-Jampel Syndrome	Death in infancy, Abnormally ossified vertebrae, Apnea, Short neck, Hyperlordosis, Kyphosis, Spin...	ORPHA:800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Microcephaly	ORPHA:1005
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Microcephaly, Kyphosis, Prominent protruding coccyx, Abnormal septum p...	OMIM:300966
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still...	OMIM:236680
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Absent septum pellucidum, Microcephaly, Kyphosis,...	OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Megalencephaly, Kyphosis, Diff...	ORPHA:457359
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
Marfan Syndrome	Spontaneous pneumothorax, Kyphosis, Meningocele, Dural ectasia, Scoliosis, Emphysema, Striae dist...	ORPHA:558
Hurler-Scheie Syndrome	Kyphosis, Pulmonary arterial hypertension, Scoliosis	OMIM:607015
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Multiple Pterygium-Malignant Hyperthermia Syndrome	Dyspnea, Kyphosis, Scoliosis	ORPHA:2215
Diamond-Blackfan Anemia	Microcephaly, Pallor, Short neck	ORPHA:124
2Q31.1 Microdeletion Syndrome	Short neck, Microcephaly, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis...	ORPHA:251014
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Niemann-Pick Disease Type C	Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Hypoplasia of the corpus callos...	ORPHA:646
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Syringomyelia, Spondylolysis, Scol...	OMIM:119600
Osteogenesis Imperfecta	Neonatal respiratory distress, Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression ...	ORPHA:666
Fanconi Anemia, Complementation Group E	Anemic pallor, Microcephaly	OMIM:600901
Zttk Syndrome	Dysplastic corpus callosum, Kyphosis, Hemivertebrae, Optic atrophy, Abnormal cerebral white matte...	OMIM:617140
Arima Syndrome	Dyspnea, Tachypnea, Optic atrophy, Gray matter heterotopia, Occipital meningocele	OMIM:243910
Mucopolysaccharidosis Type 6	Kyphosis, Sinusitis, Ovoid vertebral bodies, Short neck	ORPHA:583
Fanconi Anemia, Complementation Group A	Anemic pallor, Microcephaly	OMIM:227650
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Cockayne Syndrome A	Abnormal auditory evoked potentials, Microcephaly, Decreased nerve conduction velocity, Kyphosis,...	OMIM:216400
Alstrom Syndrome	Kyphosis, Asthma, Recurrent pneumonia, Scoliosis	OMIM:203800
Monosomy 9Q22.3	Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Calcification of falx c...	ORPHA:77301
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis, Microcephaly	ORPHA:2479
Autosomal Recessive Spastic Paraplegia Type 35	Corpus callosum atrophy, Kyphosis, Optic atrophy, Eye of the tiger anomaly of globus pallidus, Hy...	ORPHA:171629
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Microcephaly, Scoliosis, Short neck	ORPHA:85293
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Cough, Exertional dy...	OMIM:233450
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Striae distensae	OMIM:219080
Smith-Lemli-Opitz Syndrome	Death in infancy, Sacral dimple, Diffuse cerebral atrophy, Aganglionic megacolon, Microcephaly, P...	OMIM:270400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Microcephaly, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis	OMIM:301040
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Hydrocephalus, Hypoplasia of the co...	ORPHA:401973
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Striae distensae	OMIM:610475
Cohen Syndrome	Kyphosis, Optic atrophy, Scoliosis, Microcephaly	ORPHA:193
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Kyphosis, Hypoplasia of the corpus callosum, Scoliosis, Agenesis of corpus callosum	OMIM:619194
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Cockayne Syndrome Type 3	Optic disc pallor, Neurogenic bladder, Cerebral white matter atrophy, Kyphosis, Basal ganglia cal...	ORPHA:90324
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Repeated pneumothoraces, Scoliosis	OMIM:617602
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vert...	OMIM:265000
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Neonatal respiratory distress, Scoliosis, Death in childhood	OMIM:619005
Pseudoxanthoma Elasticum, Forme Fruste	Calcification of falx cerebri, Kyphosis, Scoliosis	OMIM:177850
Congenital Disorder Of Glycosylation, Type Ia	Death in childhood, Kyphosis, Death in infancy, Microcephaly	OMIM:212065
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Secondary microcephaly, Scoliosis, Primary microcephaly	ORPHA:476126
Cockayne Syndrome	Optic disc pallor, Neurogenic bladder, Cerebral calcification, Cerebral dysmyelination, Decreased...	ORPHA:191
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Microcephaly, Kyphosis, Hypoplasia of the corpus callosum, Scoliosis, Primary ...	ORPHA:464306
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Absent septum pellucidum, Microcephaly, Kyphosis, Erythema, Platyspondyly,...	ORPHA:2273
Cowden Syndrome 1	Kyphosis, Hemimegalencephaly, Scoliosis	OMIM:158350
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Microcephaly, Short neck, Kyphosis, Optic atrophy, Abnormal form of the ve...	ORPHA:818
Mgat2-Cdg	Respiratory distress, Kyphosis, Progressive microcephaly, Scoliosis	ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 57	Hyperventilation, Kyphosis, Scoliosis, Microcephaly	OMIM:618050
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Redundant skin, Kyphoscoliosis, Kyphosis	ORPHA:536532
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Frank-Ter Haar Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominen...	OMIM:249420
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Dysplastic corpus callosum, Kyphosis, Thick corpus callosum, Scoliosis	OMIM:300967
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration...	OMIM:619482
Poland Syndrome	Encephalocele, Short neck, Microcephaly, Kyphosis, Hemivertebrae, Vertebral segmentation defect, ...	ORPHA:2911
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Striae distensae	OMIM:610489
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture, Pulmonary arterial hypertension	ORPHA:77259
Orofaciodigital Syndrome Type 14	Short neck, Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, A...	ORPHA:434179
Atelis Syndrome 2	Dyspnea, Kyphosis, Sacral dimple, Microcephaly	OMIM:620185
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Periventricular Nodular Heterotopia 9	Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular...	OMIM:618918
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Mend Syndrome	Kyphosis, Sacral dimple, Redundant neck skin, Hydrocephalus	OMIM:300960
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis, Pulmonary embolism	ORPHA:394
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Prader-Willi Syndrome	Kyphosis, Scoliosis, Hypoventilation	OMIM:176270
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ver...	OMIM:259770
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failure	ORPHA:3404
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Aganglionic megacolon, Scoliosis, Hyperlordosis	OMIM:162300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po...	ORPHA:3042
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona...	OMIM:143095
Autosomal Recessive Robinow Syndrome	Death in infancy, Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Genitopatellar Syndrome	Microcephaly, Periventricular heterotopia, Colpocephaly, Scoliosis, Pachygyria, Agenesis of corpu...	OMIM:606170
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Microcephaly, Head titubation, Kyphosis, Hydrocephalus, Abnormal curvature of the vert...	OMIM:619475
1P36 Deletion Syndrome	Microcephaly, Kyphosis, Optic atrophy, Spinal canal stenosis, Scoliosis, Agenesis of corpus callo...	ORPHA:1606
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Mucolipidosis Type Ii	Stridor, Kyphosis, Respiratory failure requiring assisted ventilation, Restrictive ventilatory de...	ORPHA:576
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Kyphosis, Respiratory insufficiency, Skin ulcer, Platyspondyly, Scoliosis	ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Cerebral edema, Kyphoscoliosis, Megalencephaly	ORPHA:3063
Camurati-Engelmann Disease	Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the vertebral column, Scolio...	ORPHA:1328
Coffin-Siris Syndrome 1	Sacral dimple, Microcephaly, Kyphosis, Partial agenesis of the corpus callosum, Scoliosis, Hypopl...	OMIM:135900
Shprintzen Omphalocele Syndrome	Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Microcephaly	OMIM:619123
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Redundant skin, Orthostatic hypotension	OMIM:304150
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Williams Syndrome	Death in early adulthood, Sacral dimple, Redundant skin, Hyperlordosis, Atrophy/Degeneration invo...	ORPHA:904
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Cdags Syndrome	Kyphosis	OMIM:603116
17Q11 Microdeletion Syndrome	Kyphosis, Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3,...	ORPHA:97685
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Microcephaly, Kyphosis, Hypoplasia of the corpus callosum, Scoliosis, Cerebral cor...	ORPHA:268261
Lymphedema-Distichiasis Syndrome	Kyphosis, Chylothorax	OMIM:153400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis, Microcephaly	ORPHA:2232
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Periventricular heter...	ORPHA:261537
Proteus Syndrome	Pulmonary embolism, Kyphosis, Abnormal form of the vertebral bodies, Gray matter heterotopia, Sco...	ORPHA:744
Aspartylglucosaminuria	Microcephaly, Kyphosis, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Beaking of ver...	OMIM:208400
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Cerebral calcification, Scoliosis	ORPHA:198
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Wrinkly Skin Syndrome	Redundant skin, Microcephaly, Kyphosis, Neonatal wrinkled skin of hands and feet, Scoliosis, Palm...	OMIM:278250
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis	OMIM:266270
Neurofibromatosis Type 1	Kyphosis, Hydrocephalus, Scoliosis	ORPHA:636
Coffin-Lowry Syndrome	Microcephaly, Kyphosis, Cutis laxa, Lumbar kyphosis, Scoliosis	OMIM:303600
Yunis-Varon Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Microcephaly, Kyphosis, Hypoplasia...	OMIM:216340
Viss Syndrome	Microcephaly, Kyphosis, Asthma, Pneumothorax, Hypereosinophilia, Dyspnea, Cutis laxa, Scoliosis, ...	OMIM:619472
Mowat-Wilson Syndrome	Focal cortical dysplasia, Aganglionic megacolon, Microcephaly, Periventricular heterotopia, Large...	ORPHA:2152
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:828
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Periventricular cysts, Scoliosis	OMIM:309000
Cowden Syndrome	Kyphosis, Scoliosis	ORPHA:201
Sotos Syndrome	Sacrococcygeal teratoma, Aganglionic megacolon, Kyphosis, Cerebral atrophy, Aplasia/Hypoplasia of...	ORPHA:821
Turner Syndrome Due To Structural X Chromosome Anomalies	Kyphosis, Scoliosis, Short neck	ORPHA:99413
Mosaic Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99228
Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99226
Turner Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:881
Acromegaly	Kyphosis, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Spinal canal stenosis	ORPHA:314769
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Short neck	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Primrose Syndrome	Cerebral calcification, Kyphosis, Irregular vertebral endplates, Posterior scalloping of vertebra...	OMIM:259050
Alström Syndrome	Respiratory distress, Optic disc pallor, Thoracic scoliosis, Kyphosis, Chronic pulmonary obstruct...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fbxo45

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbxo45.

No publications found that use IMPC mice or data for Fbxo45.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fbxo45^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fbxo45^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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