Gene Summary

Name:
lamin B1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Lmnb1tm1a(EUCOMM)Wtsi HET Early adult 1.82×10-09
decreased total body fat amount Lmnb1tm1a(EUCOMM)Wtsi HET Early adult 8.74×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Histopathology

Images

10 Images

Legacy Phenotype Associated Images

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Human diseases caused by Lmnb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lmnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Recurrent pneumonia, Hypoplasia... OMIM:619179
Autosomal Dominant Primary Microcephaly
Microcephaly ORPHA:2514
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the brainstem, Atrophy/Degeneration affecting the cerebrum, Aplasi... ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Diffuse leukoencephalopathy, Corpus callosu... OMIM:169500

The table below shows human diseases predicted to be associated to Lmnb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Intrauterine growth retardation, Lissencephaly, Pachygyria, Agyria,... OMIM:615411
Microlissencephaly
Pneumonia, Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pa... ORPHA:1083
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Hypoplasia of the brainstem, Agyria, Cerebellar hypopla... OMIM:607432
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Abnormal respiratory system physiology, Respiratory insufficiency,... ORPHA:266
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle clonus... OMIM:600561
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Lissencephaly 3
Lissencephaly, Pachygyria, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogy... OMIM:611603
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Respiratory insufficiency, Cerebellar vermis hypoplasia, Flexion contrac... OMIM:616081
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Decreased muscle mass, Distal arthrogryposis, Respiratory insufficiency, Arthrogryposis multiplex... OMIM:208081
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Arthrogryposis multipl... OMIM:618291
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Respirat... OMIM:253300
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex cong... OMIM:611369
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Global brain atrophy, Respiratory fai... OMIM:611722
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... OMIM:300067
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia, Microcephaly OMIM:618572
Periventricular Nodular Heterotopia 7
Optic atrophy, Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia,... OMIM:617201
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Congenital fibrosis of extraocular muscles, Lissencephaly, Pachygyria,... OMIM:610031
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Hip contracture, Platyspondyly, Knee flexion contracture, Kyphosis, En... OMIM:313420
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation, Microcephaly, Cerebral calcif... ORPHA:1980
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Macrocephaly, Cortical dy... OMIM:618709
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Respiratory insufficiency, Skeletal muscle hypertrophy, Facial palsy... ORPHA:370968
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Respiratory ins... OMIM:611890
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Res... OMIM:225753
Band Heterotopia
Subcortical band heterotopia, Macrocephaly, Polymicrogyria, Gray matter heterotopia, Agenesis of ... OMIM:600348
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput, Microcephaly, Cerebral cortical atrophy ORPHA:1665
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Intrauterine growth retardation, Respiratory insufficiency, Arthrogryposis multipl... OMIM:615330
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Respiratory insufficiency, Microcephaly, Cerebral calcification ORPHA:1314
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Large fontanelles, Short neck, Respiratory distress, Respiratory... ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Intrauterine growth retardation, Focal T2 hyperinte... OMIM:619057
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Cerebellar h... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Lissencephaly, Periventricular ribbonlike heterotopia, Thick cerebral cor... OMIM:618677
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, ... ORPHA:90117
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Platyspondyly, Short ribs, Kyphosis, Relatively short spi... OMIM:156530
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Nemaline Myopathy 8
Death in infancy, Myofibrillar myopathy, Facial palsy, Flexion contracture, Respiratory failure, ... OMIM:615348
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodactyly of finger, Re... OMIM:614399
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... ORPHA:168486
Lissencephaly 5
Optic atrophy, Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopath... OMIM:615191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Skeletal muscle hypertrophy, Macroglossia, Achilles tendon con... OMIM:608840
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Respiratory distress, Polymicrogyria, Cerebellar hypoplasia, Agenesis of co... ORPHA:171703
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Skeletal muscle atrophy, Arthrogryposi... OMIM:616867
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Mental Retardation, Autosomal Dominant 13
Plagiocephaly, Pachygyria, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microc... OMIM:614563
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... OMIM:610921
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Muscular dystrophy, Flexion contracture, Respiratory failure OMIM:613869
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callosum morphology, Turricephaly... OMIM:616602
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Recurrent respiratory infectio... OMIM:618603
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Dysgyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Abnormal cerebral wh... ORPHA:352682
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Intrauterine growth retardation, Microcephaly ORPHA:2216
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Myofibrillar myopathy, Achilles tendon contracture, Scapular wingi... OMIM:603689
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... OMIM:619602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina DECIPHER:34
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Abnormal joint morphology, Biconcave flattened vertebrae, Wormian bones, Platybasia, Moderate gen... OMIM:166230
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Hip contracture, Hamstring contractures, Spinal rigidity, H... ORPHA:97244
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Cerebral atrophy, Respiratory failure, Microcep... OMIM:610127
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Lung adenocarcinoma, Interlobular septal thi... ORPHA:2302
Hyperekplexia 4
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly, Respiratory failure, U... OMIM:618011
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Polymicrogyria, Midface retrusion, ... OMIM:618774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Midface retrusion, Hypoplasia of the corpus... OMIM:618577
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Intrauterine growth retardation, Polymicrogyria, Respiratory failure, Microcephaly OMIM:610678
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly OMIM:236795
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Tachypnea... OMIM:265120
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... ORPHA:98913
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Lissencephaly, Respiratory distress, Abnormal mucociliary clearance, Recurrent re... OMIM:619466
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature, Cerebral atrophy OMIM:618637
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Cerebral atrophy, Respiratory failure, Secondary microcephaly, Hypoplasi... OMIM:617248
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Intrauterine g... OMIM:245400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... ORPHA:254875
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Limb muscle weakness, Tachypnea, Decreased nerve conduction velo... OMIM:604320
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Kyphosis, Hip dislocation, Spinal rigidity, Hyperextensibility at wrist... ORPHA:75840
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Microcephaly OMIM:617768
Hao-Fountain Syndrome
Trigonocephaly, Delayed cranial suture closure, Large fontanelles, Central sleep apnea OMIM:616863
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency, Cerebral atr... OMIM:600333
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Microcephaly OMIM:618354
Pycnodysostosis
Spondylolysis, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Frontal bos... OMIM:265800
Hemimegalencephaly
Optic atrophy, Hemimegalencephaly, Abnormal neuron morphology, Pachygyria, Macrocephaly, Polymicr... ORPHA:99802
Bruck Syndrome
Respiratory insufficiency, Osteoporosis, Platyspondyly, Wormian bones, Kyphosis, Arthrogryposis m... ORPHA:2771
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Ectopic ossification in muscle tissue, Ectopic ossification in ligamen... OMIM:135100
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... OMIM:619334
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Dolichocephaly, Agenesis of corpus callosum, Brachycephaly OMIM:615433
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... OMIM:610967
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Thick corpus callosum, Prominent occiput, Dolichocephaly, Hypoplasi... OMIM:618672
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Respiratory insufficiency, Hypoplasia of the ventral pons, Hypopl... OMIM:607596
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Dolichocephaly, Type II ... ORPHA:272
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ... OMIM:617481
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Intrauterine growth retardation, Microlissencephaly, Primary m... ORPHA:89844
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Polymicrogyria, Midface retrusion, Microcephaly OMIM:618731
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Respiratory distress, Recurre... ORPHA:2759
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Wormian bones, Abnormal cortical bone morphology, R... ORPHA:970
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum ORPHA:521390
Immunodeficiency 54
Intrauterine growth retardation, Respiratory insufficiency, Respiratory failure, Recurrent respir... OMIM:609981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Respiratory insufficiency, Hypoplasia of the pons, Death in childhood,... OMIM:613153
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Respiratory insufficiency due... ORPHA:352447
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Hypointensity of cerebral white matter on MRI, Respiratory insufficie... OMIM:607855
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Abnormal lower ... ORPHA:2590
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Platyspondyly, Wormian bones, Kyphosis, Beaded ribs, Multiple p... OMIM:259440
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Osteoporosis, Wormian bones, Midface retrusion, Scoliosis, Generalized osteop... OMIM:613849
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Microcephaly ORPHA:2204
Malan Overgrowth Syndrome
Plagiocephaly, Frontal bossing, Hypoplasia of the brainstem, Scaphocephaly, Dilation of lateral v... ORPHA:420179
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Abnormal l... ORPHA:945
Atelosteogenesis, Type Ii
Death in infancy, Increased intervertebral space, Respiratory insufficiency, Coronal cleft verteb... OMIM:256050
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Microcephaly, Cerebral atrophy OMIM:618008
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Thin ribs, Pulmonary arterial hyper... OMIM:259420
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Temporal cortical atrophy, Brachycephaly, Prominent metopic ridge, Hypoplasia of t... OMIM:618862
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... ORPHA:2512
Mental Retardation, Autosomal Dominant 58
Plagiocephaly, Microcephaly OMIM:618106
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Hypoplasia of the brainstem, Recurrent pneumonia, Polymicrogyria, Abnormal periven... ORPHA:500159
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Abnormal respiratory system physio... ORPHA:98905
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Summitt Syndrome
Plagiocephaly, Prominent metopic ridge, Craniosynostosis ORPHA:3210
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Craniofrontonasal Dysplasia
Plagiocephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Hypoplasia of the corpus callosu... ORPHA:1520
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Intrauterine growth retardation, Microcephaly, Aplasia/Hypoplasia of the corpus... ORPHA:1194
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... ORPHA:449280
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Periventricular het... OMIM:616212
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Respiratory insufficiency, Radial club hand, Abnormal verteb... OMIM:276950
Muenke Syndrome
Plagiocephaly, Midface retrusion, Coronal craniosynostosis, Brachycephaly OMIM:602849
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Brachycephaly, Frontal bossing, Cerebral atrophy, Hypoplasia of the corpus callosu... OMIM:616801
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... OMIM:600775
Pentasomy X
Plagiocephaly, Microcephaly ORPHA:11
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphys... ORPHA:1164
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Midface retrusion, Short ribs, Respiratory distress, Respiratory failure, Promin... OMIM:617895
6Q25 Microdeletion Syndrome
Plagiocephaly, Agenesis of corpus callosum, Microcephaly ORPHA:251056
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly OMIM:615656
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Macrocephaly, Death in infancy OMIM:618240
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Flat occiput, Partial agenesis of the corpus callosum, Dysgenesis of the hippocamp... ORPHA:300570
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Meningocele, Myelomen... ORPHA:101030
Coffin-Siris Syndrome 6
Plagiocephaly, Periventricular leukomalacia, Wormian bones, Frontal bossing OMIM:617808
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Cerebellar vermis hypoplasia, Macrocephaly, Polymicrogyria, Agyria, Cerebral ... OMIM:616538
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Recurrent bronchitis, Hypoplasia of the pons, Frontal bossing, Recurrent pneumonia... OMIM:619293
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Osteoporosis, Wormian bones, Dislocated radial head, Platyspondyly, Joint hypermo... OMIM:614856
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Microcephaly ORPHA:77300
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormality of the elbow, Brachycephaly, Anterior plagiocephaly, Platyspondyly, Abnormality of cr... ORPHA:163649
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Stillbirth, Multiple prenatal fractures, Wormian bones, Platyba... OMIM:259410
Chiari Malformation Type Ii
Myelomeningocele, Limb muscle weakness, Syringomyelia, Cervical myelopathy, Spina bifida, Gray ma... OMIM:207950
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Leukoencephalopathy, Central hypoventilation, Respiratory failure OMIM:618233
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Neonatal respiratory distress, Recurrent aspiration pneumonia, Inter... ORPHA:70
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Diffuse white matter abnormalities, Skeletal muscle hypertrophy, Macroglossia, Hyp... ORPHA:370959
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Prominent metopic ridge, Hypoplasia of the corpus callosum, Microcephaly OMIM:616362
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Pulmonary hypoplasia, A... ORPHA:86822
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Fusion of midcervical facet joints, Cervical vertebral bodies with dec... OMIM:606842
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Lessel-Kreienkamp Syndrome
Plagiocephaly, Wide cranial sutures, Scaphocephaly, Frontal bossing OMIM:619149
Bresek Syndrome
Plagiocephaly, Neonatal death, Microcephaly ORPHA:85284
Severe Congenital Nemaline Myopathy
Thin ribs, Large fontanelles, Multiple prenatal fractures, Arthrogryposis multiplex congenita, Fl... ORPHA:171430
Grant Syndrome
Large fontanelles, Brachycephaly, Joint dislocation, Wormian bones, Abnormal cortical bone morpho... ORPHA:2097
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly ORPHA:1143
Carey-Fineman-Ziter Syndrome
Plagiocephaly, Hypoplasia of the brainstem, Microcephaly OMIM:254940
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Craniosynostosis, Trigonocephaly OMIM:618265
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Intrauterine growth retardation, Microcephaly, ... ORPHA:2518
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Facial palsy, Diaphragmatic eventration, Macrocephaly, Flexion con... OMIM:310400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Absent muscle fiber merosin, Respiratory insufficiency, Myositis, Ma... ORPHA:258
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Polymicrogyria, Subcortical heterotopia OMIM:614483
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... OMIM:617822
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... OMIM:606071
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Respiratory insufficiency, Multiple joint dislocation, Neonatal death, Join... OMIM:245650
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Brachycephaly, F... OMIM:617296
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Intrauterine growth reta... ORPHA:2772
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Periventricular cysts, Periventricular heterotopia, Corticospina... ORPHA:255138
Hypophosphatasia
Respiratory insufficiency, Large fontanelles, Craniosynostosis, Abnormal rib morphology, Recurren... ORPHA:436
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Microcephaly OMIM:618089
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Muscular dystrophy, Hypoplasia of the brainstem, Optic ne... OMIM:615287
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respiratory failur... ORPHA:70587
Walker-Warburg Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal ... ORPHA:899
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:616789
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Increased muscle lipid content, Respiratory insufficiency, Elb... OMIM:608836
Dihydropyrimidinase Deficiency
Plagiocephaly, Abnormal cerebral white matter morphology OMIM:222748
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, Cavum septum pellucidum, Delayed cranial suture closure, Recurrent r... OMIM:619383
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Large fontanelles, Brachycephaly, Neonatal death, Cerebral cal... OMIM:259775
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Midface retrusion, Frontal bossing, Brachycephaly OMIM:618430
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Cerebral atrophy, Respiratory failure, Abnormal periventricular white matter m... OMIM:615838
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly OMIM:613457
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Abnormal corpus callosum morphology, Frontal bossing, Cavum septum pellucidum, Wid... ORPHA:457279
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency, Hypoventilation, Hyperlordosis, Flexion contracture, Respiratory failu... OMIM:310200
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Macrogyria, Confluent hyperintensity of cerebral w... ORPHA:280210
Menkes Disease
Intrauterine growth retardation, Brachycephaly, Osteoporosis, Wormian bones, Death in childhood, ... OMIM:309400
Leigh Syndrome
Optic atrophy, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnormal patt... OMIM:256000
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Osteogenesis Imperfecta, Type Ii
Respiratory insufficiency, Large fontanelles, Thin ribs, Platyspondyly, Wormian bones, Multiple p... OMIM:166210
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Trigonocephaly, Prominent metopic ridge, Camptodactyly, Respirat... OMIM:618804
Caffey Disease
Cortical thickening of long bone diaphyses, Respiratory insufficiency, Periosteal thickening of l... ORPHA:1310
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Reticular pattern on pulmon... ORPHA:99931
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology... ORPHA:70472
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Myelopathy, Leukoencephalopathy, Cerebral edema, Respiratory failure OMIM:617186
Bruck Syndrome 2
Increased susceptibility to fractures, Platyspondyly, Knee flexion contracture, Wormian bones, Os... OMIM:609220
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Anauxetic Dysplasia 3
Plagiocephaly, Midface retrusion, Recurrent respiratory infections, Wide anterior fontanel OMIM:618853
Melnick-Needles Syndrome
Respiratory insufficiency, Abnormal cortical bone morphology, Frontal bossing, Hip dislocation, C... ORPHA:2484
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin bony cortex, Thin ribs, Joint laxity, Wormian bones, Joint hyper... OMIM:617952
Cole-Carpenter Syndrome 2
Thin ribs, Wormian bones, Platyspondyly, Kyphosis, Frontal bossing, Osteopenia, Turricephaly, Cor... OMIM:616294
Hypomelanosis Of Ito
Gray matter heterotopia, Macrocephaly, Microcephaly, Cerebral atrophy OMIM:300337
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Abnormal respiratory system physiology, Motor neuron atrophy, Amyotrophi... ORPHA:803
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Brachycephaly, Abnormal cerebral white matter morphology, Midface retrusion, Hypop... ORPHA:261652
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Wide anterior fontanel, Hypoplast... OMIM:113000
Alg1-Cdg
Respiratory failure, Scoliosis, Limitation of joint mobility, Kyphosis ORPHA:79327
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Restrictive ventilatory defect, Hypoxemia, Respiratory insuff... ORPHA:60025
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Brachycephaly, Multiple rib fractures, Wormian bones, Platyspond... OMIM:616897
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscol... OMIM:231070
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Hyperphosphatasia With Mental Retardation Syndrome 2
Plagiocephaly, Peripheral pulmonary artery stenosis, Left unicoronal synostosis, Anterior plagioc... OMIM:614749
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Polymicrogyria, Cerebellar hypoplasia, Cerebral calcification, Gray ma... OMIM:617397
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Spondylolysis, Respiratory insufficiency, Delayed closure of the an... OMIM:304120
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly OMIM:618821
Hypophosphatasia, Infantile
Decreased calvarial ossification, Death in infancy, Increased susceptibility to fractures, Cranio... OMIM:241500
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures, Hyp... OMIM:604922
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial palsy, Elevated ... OMIM:612387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Gray matter heterotopia, Opti... OMIM:614643
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Craniosynostosis, Microcephaly, Brachycephaly ORPHA:2163
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Apnea, Central hypoventilation, Progressive microcephaly, Polymicrogyria OMIM:300673
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:236410
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Hypoplasia of the pons, ... OMIM:618736
Cole-Carpenter Syndrome
Intrauterine growth retardation, Abnormal form of the vertebral bodies, Wormian bones, Kyphosis, ... ORPHA:2050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Midface retrusion, Brachycephaly ORPHA:369891
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Atrophy/Degeneration affecting the brainstem, Frontal bossing, Diffuse cerebral at... OMIM:617193
Neu-Laxova Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal ... ORPHA:2671
Thanatophoric Dysplasia, Type Ii
Respiratory insufficiency, Cloverleaf skull, Wide-cupped costochondral junctions, Neonatal death,... OMIM:187601
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Thin ribs, Pneumothorax, Neonatal death, Short ribs, Short stern... OMIM:266910
Radio-Renal Syndrome
Abnormality of the elbow, Abnormal form of the vertebral bodies, Short neck, Respiratory distress... ORPHA:3015
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Trigonocephaly, Craniosynostosis, Camptodactyly of toe, Joint contracture of ... OMIM:175700
Noonan Syndrome 13
Plagiocephaly, Prominent metopic ridge, Cavum septum pellucidum, Microcephaly OMIM:619087
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Microcephaly, Hypoplasia of the corpus callosum, Frontal bossing ORPHA:371364
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormality of the optic disc, Aplasia/Hypoplasia of the cereb... ORPHA:65
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Caudate atrophy, Myopathy, Cerebral atrophy ORPHA:363400
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Wormian bones, Osteopenia, Thin calvarium, Vertebral arch anomaly, Wide anterio... ORPHA:85184
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Skeletal muscle atrophy, Increased intramyocellular lipid droplets, Scap... ORPHA:26791
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ventricular hypertrophy, Abnorma... ORPHA:444013
Joubert Syndrome 30
Tachypnea, Dandy-Walker malformation, Apnea, Gray matter heterotopia OMIM:617622
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Premature Aging Syndrome, Penttinen Type
Midface retrusion, Wormian bones, Osteopenia, Thin calvarium, Delayed cranial suture closure, Sco... OMIM:601812
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Congenital diaphragmatic hernia, Microcephaly, Abnormality of the pulm... ORPHA:1166
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Prominent metopic ridge, Microcephaly OMIM:619188
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Intrauterine growth retardation, Respirator... ORPHA:2311
Spinocerebellar Ataxia Type 1
Optic atrophy, Skeletal muscle atrophy, Abnormality of somatosensory evoked potentials, Respirato... ORPHA:98755
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Limitation of joint mobili... ORPHA:166277
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Abnormality of the wrist, Hyperlordosis, Delayed ... ORPHA:2511
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Partial agenesis of the corpus callosum, Large fontanelles, Brachycephaly, Hypopla... OMIM:619512
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Brachycephaly, Wormian bones, Midface retrusion, Microcephaly OMIM:618644
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Macrocephaly, Respiratory insufficiency OMIM:187600
Osteogenesis Imperfecta, Type Viii
Thin ribs, Wormian bones, Platyspondyly, Kyphosis, Multiple prenatal fractures, Osteopenia, Wide ... OMIM:610915
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thin bony cortex, Thoracic kyphosis, Wormian bones OMIM:619638
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Trigonocephaly, Apnea, Arthrogryposis multiplex congenita, Genu recurvatum, Hip ... OMIM:617301
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Pro... OMIM:300749
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Premature anterior fontanel closure, Dysgenesis of the hippocampus, Brachycephaly,... OMIM:619435
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Biparietal narrowing, Frontal bossing, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2612
Tetrasomy 18P
Abnormality of neuronal migration, Microcephaly ORPHA:3307
Thanatophoric Dysplasia
Intrauterine growth retardation, Respiratory insufficiency, Macrocephaly, Gray matter heterotopia... ORPHA:2655
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Flexion contracture, Distal amyotrophy, Respiratory failure, Basal ganglia calcifi... OMIM:616505
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Respiratory failure, Dyspnea ORPHA:70578
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Colpocephaly, Simplified gyral pattern, Macrocephaly, Gray matter heterotopia, Lis... OMIM:615219
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Death in infancy, Multiple rib fractures, Hypoplastic pulmonary... OMIM:610682
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Tachypnea, Dysplastic sacrum, Pulmonary arterial hypertension, Wormian bones, ... OMIM:613320
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Stillbirth, Cerebral atrophy, Respiratory failure, Microcephaly OMIM:259720
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Primary microcephaly,... ORPHA:496641
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Macroglossia, Respiratory insufficiency due to muscle weakness, Facial... ORPHA:308552
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Cere... OMIM:615471
16P13.2 Microdeletion Syndrome
Plagiocephaly, Dilated third ventricle, Brachycephaly, Cerebral white matter atrophy, Periventric... ORPHA:500055
Asparagine Synthetase Deficiency
Respiratory insufficiency, Hypoplasia of the pons, Simplified gyral pattern, Progressive microcep... OMIM:615574
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Platyspondyly, Wormian bones, Joint hypermobility, Recurrent fractures, Scoliosis OMIM:619131
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Meningocele, Abnormality of neuronal migration, Death in infancy, Syri... ORPHA:2481
Snakebite Envenomation
Epistaxis, Respiratory paralysis, Muscle fiber necrosis, Hypopituitarism, Respiratory failure, Rh... ORPHA:449285
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Osteopetrosis, Coarse metaphy... ORPHA:2780
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Gray matter heterotopia, Agenesis o... OMIM:164180
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus ca... ORPHA:363528
Pycnodysostosis
Spondylolysis, Stridor, Intrauterine growth retardation, Obstructive sleep apnea, Generalized ost... ORPHA:763
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Ankle flexion contracture, Intercostal muscle weakness, Hip contracture, Elbow flexion... ORPHA:2020
Joubert Syndrome
Abnormality of neuronal migration, Aganglionic megacolon, Abnormal pattern of respiration, Apnea,... ORPHA:475
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Macrocephaly, Respiratory insufficiency, Aplasia/Hypoplasia of... ORPHA:93274
Joubert Syndrome 1
Plagiocephaly, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongat... OMIM:213300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Upper airway obstruction, Hypopituitarism, Gray matter heter... OMIM:603671
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Increased susceptibility to fractures, Wormian bones, Kyphosis, Re... OMIM:166220
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita... OMIM:253310
Desmosterolosis
Abnormal cortical gyration, Abnormality of neuronal migration, Intrauterine growth retardation, A... ORPHA:35107
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Protrusio acetabuli, Sclerotic cranial sutures, Osteoporosis,... OMIM:259600
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Cavum septum pellucidum, Respirat... ORPHA:209905
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal globu... ORPHA:70474
Vici Syndrome
Optic atrophy, Death in infancy, Hypoplasia of the pons, Cerebellar hypoplasia, Gray matter heter... ORPHA:1493
Fg Syndrome Type 1
Plagiocephaly, Craniosynostosis, Widely patent fontanelles and sutures, Small pituitary gland, Ap... ORPHA:93932
Developmental And Epileptic Encephalopathy 84
Plagiocephaly, Microcephaly OMIM:618792
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Flat occiput, Thin bony cortex, Enlargement of the wrists, Rickets, Delayed epiphyseal ossificati... OMIM:600081
Cdags Syndrome
Brachycephaly, Short ribs, Parietal foramina, Frontal bossing, Kyphosis, Delayed cranial suture c... OMIM:603116
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... ORPHA:85199
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Wormian bones, Kyphosis, Joint hypermobility, Hip dislocation, Joint subluxation, Hyperlordosis, ... OMIM:617821
Seckel Syndrome 9
Intrauterine growth retardation, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Si... OMIM:616777
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Myopathy, Neonatal respiratory distress, Cerebral calcificatio... ORPHA:157
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Brachycephaly, Abnormal corpus callosum morphology, Cerebral atrophy, Midface retr... OMIM:618268
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Immotile sperm, Rhinitis, Resp... OMIM:614874
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Increased head circumference, Hypointensity of ce... ORPHA:206436
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Congenital Diaphragmatic Hernia
Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Respiratory dist... ORPHA:2140
Robinow-Sorauf Syndrome
Plagiocephaly OMIM:180750
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Trisomy 20P
Plagiocephaly, Dolichocephaly, Frontal bossing, Brachycephaly ORPHA:261318
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Craniosynostosis, Microcephaly ORPHA:457193
Hyperphosphatasia With Mental Retardation Syndrome 1
Plagiocephaly, Midface retrusion, Cerebral cortical atrophy OMIM:239300
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Microcephaly, Abnormal cerebral ... OMIM:300957
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Muscular dystrophy, Cerebellar hypoplasia, Respiratory failure, Hypoplasi... ORPHA:88618
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Distal arthrogryposis, Limb hypertonia, Intrauterine growth re... ORPHA:98889
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory distress, Respiratory failure, Dyspnea, Microcephaly ORPHA:2707
Pagod Syndrome
Abnormality of neuronal migration, Meningocele, Optic atrophy, Death in infancy, Congenital diaph... ORPHA:991
Cleidocranial Dysplasia
Sinusitis, Large fontanelles, Brachycephaly, Abnormal sacrum morphology, Osteoporosis, Wormian bo... ORPHA:1452
Dysosteosclerosis
Increased intervertebral space, Obstructive sleep apnea, Irregular vertebral endplates, Delayed c... OMIM:224300
Fibrochondrogenesis 1
Anterior rib cupping, Thin ribs, Posterior vertebral hypoplasia, Joint contracture of the hand, P... OMIM:228520
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Thin ribs, Calvarial... ORPHA:93324
Craniometadiaphyseal Dysplasia
Genu varum, Cubitus valgus, Wormian bones, Genu valgum, Osteopenia, Wide anterior fontanel, Broad... OMIM:269300
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency, Short ribs OMIM:273730
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Brachycephaly, Osteolysis involving bones of the lower limbs, Osteolysis invol... ORPHA:371428
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Abnormal periventricular white matter morp... OMIM:615960
Short Rib-Polydactyly Syndrome
Flat occiput, Horizontal ribs, Absent or minimally ossified vertebral bodies, Intrauterine growth... ORPHA:1505
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Macrocephaly ORPHA:44
Mitochondrial Complex I Deficiency, Nuclear Type 1
Progressive macrocephaly, Optic neuropathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Re... OMIM:252010
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mercury Poisoning
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Respir... ORPHA:330021
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Weakness... ORPHA:79138
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexio... OMIM:618733
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Subcortical white matter calcifications, Cerebellar hypoplas... ORPHA:3240
Craniosynostosis-Fibular Aplasia Syndrome
Respiratory insufficiency, Large fontanelles, Brachycephaly, Wormian bones, Sacral dimple, Midfac... ORPHA:1533
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Wormian bones OMIM:601356
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Optic neuropathy, Intrauterine growth retardation, Respiratory insufficiency, Deat... OMIM:610505
Riddle Syndrome
Pneumonia, Chronic sinusitis, Respiratory failure, Abnormal pulmonary interstitial morphology, Re... ORPHA:420741
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Abnormal parietal bone morphology, Brachycephaly ORPHA:247262
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Wormian bones, Osteopenia, Frontal bossing, ... ORPHA:2788
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thin ribs, Platyspondyly, Wormian bones, Thoracic kyphosis, Flexion contrac... OMIM:300232
Dysostosis, Stanescu Type
Brachycephaly, Wormian bones, Kyphosis, Short neck, Hyperlordosis, Increased bone mineral density... ORPHA:1798
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Large fontanelles, Brachycephaly, Wormian bones, Congenital hip ... OMIM:219150
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Respiratory insufficiency ORPHA:1895
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Delayed closure of the anterior fontanelle, Brachycephaly, Primary microcephaly, F... OMIM:610759
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Cerebr... ORPHA:445038
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Tachypnea, Apnea, Cerebellar vermis hyp... ORPHA:2318
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation, Pachygyria, Camptodactyly of ... ORPHA:2065
Miller-Dieker Lissencephaly Syndrome
Midline brain calcifications, Recurrent aspiration pneumonia, Intrauterine growth retardation, Jo... OMIM:247200
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed cranial suture closure, Delayed proximal femoral epiphyseal o... ORPHA:95717
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Microcephaly ORPHA:438134
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Plagiocephaly, Peripheral pulmonary artery stenosis, Brachycephaly, Frontal bossing, Cerebral atr... OMIM:280000
Hypocalcemic Vitamin D-Dependent Rickets
Flat occiput, Genu varum, Thin bony cortex, Enlargement of the wrists, Rickets, Increased suscept... ORPHA:289157
Lateral Meningocele Syndrome
Meningocele, Abnormal form of the vertebral bodies, Wormian bones, Kyphosis, Short neck, Craniofa... ORPHA:2789
Aymé-Gripp Syndrome
Plagiocephaly, Large fontanelles, Brachycephaly, Craniosynostosis, Prominent metopic ridge, Delay... ORPHA:1272
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia, Macrocephaly, Cerebellar hypoplasia, Abnormal cerebra... OMIM:618476
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Joint laxity, Coat hanger sign of ribs, Wrist flexion contractur... ORPHA:254528
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Familial Lambdoid Synostosis
Plagiocephaly, Flat occiput ORPHA:3267
Lateral Meningocele Syndrome
Meningocele, Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Wormian bones... OMIM:130720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Craniosynostosis, Prominent metopic ridge, Hypoplasia of the corpus callosum, Pleu... ORPHA:453499
Leigh Syndrome
Multiple joint contractures, Optic atrophy, Myopathy, Neuronal loss in basal ganglia, Skeletal mu... ORPHA:506
Cutis Laxa, Autosomal Dominant 3
Intrauterine growth retardation, Wormian bones, Osteopenia, Hip dislocation, Delayed cranial sutu... OMIM:616603
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Brachycephaly, Prominent metopic ridge, Abnormal periventricular white matter morp... ORPHA:495818
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Left ventricular hypertrophy, Exer... ORPHA:563
Alg12-Cdg
Cavum septum pellucidum, Pachygyria, Progressive microcephaly, Recurrent pneumonia, Posterior pla... ORPHA:79324
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Frontal bossing, Midface retrusion, Delayed cranial suture closure OMIM:613038
Saethre-Chotzen Syndrome
Plagiocephaly, Delayed cranial suture closure, Craniosynostosis, Brachycephaly ORPHA:794
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory in... OMIM:613845
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Macrocephaly, Agenesis of corpus callosum, Umbilical hernia ORPHA:380
Schisis Association
Congenital diaphragmatic hernia, Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Adnp Syndrome
Plagiocephaly, Brachycephaly, Trigonocephaly, Focal white matter lesions, Recurrent upper respira... ORPHA:404448
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Tachypnea, Right ventricular hypertrophy, Anomalous p... ORPHA:555874
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Epiphyseal stippling OMIM:614862
Arterial Tortuosity Syndrome
Craniosynostosis, Respiratory failure, Respiratory distress, Hip dislocation, Cardiorespiratory a... ORPHA:3342
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Midface retrusion, Prominent metopic ridge, Dolichocephaly ORPHA:2215
Poliomyelitis
Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Abnormal motor nerve conduction vel... ORPHA:2912
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Microcephaly OMIM:619227
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Frontal bossing, Thin calvarium, Delayed cranial suture closure, Midface retrusion ORPHA:1129
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epiphyseal stippling, Short ribs, Camptodactyly, Restrictive ventilatory defect, Respiratory fail... ORPHA:96334
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Antley-Bixler Syndrome
Elbow ankylosis, Brachycephaly, Craniosynostosis, Frontal bossing, Turricephaly, Abnormal rib mor... ORPHA:83
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Exerti... ORPHA:365
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... ORPHA:2258
Atelosteogenesis Type Ii
Plagiocephaly, Midface retrusion, Pulmonary hypoplasia ORPHA:56304
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Nestor-Guillermo Progeria Syndrome
Thin ribs, Delayed closure of the anterior fontanelle, Pulmonary arterial hypertension, Osteoporo... OMIM:614008
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Genu valgum, Decreased DLCO, Pulmonary fibrosis, Emphysema, Hypophosphatemic... OMIM:618913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Abnormal lung lobat... ORPHA:1120
Opitz-Kaveggia Syndrome
Plagiocephaly, Partial agenesis of the corpus callosum, Delayed closure of the anterior fontanell... OMIM:305450
Acrocallosal Syndrome
Dandy-Walker malformation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the cerebellum,... ORPHA:36
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Prominent metopic ridge, Hypoplasia of the corpus callosum, Olivopontocerebellar h... ORPHA:457284
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Respiratory insufficiency, Thin bony cortex, Rickets, Tachypnea,... OMIM:613658
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Dolichocephaly, Frontal bossing, Death in childhood OMIM:619005
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea, Pulmonary edema, Respiratory failure, Pleural effusion ORPHA:542323
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Camptodactyly of finger, Cerebral atrophy, Cerebellar hypoplasia, Cerebral hypopl... ORPHA:468631
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Abnormal cortical gyration, Arrhinencephaly, Abnormal lung lobation, Absent septum... ORPHA:2538
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Nonarteriosclerotic cerebral calcification, Emphysema OMIM:210050
Fibrochondrogenesis
Plagiocephaly, Wide anterior fontanel ORPHA:2021
Cleidocranial Dysplasia
Spondylolysis, Neonatal respiratory distress, Thickened calvaria, Delayed pubic bone ossification... OMIM:119600
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Skeletal muscle atrophy, Rhabdomyosarcoma, Recurrent sinopulmo... ORPHA:647
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Recurrent respiratory infections, Emphysema, Umbilical hernia, M... OMIM:219100
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Tracheomalacia, Cerebral atrophy, Gray matter heterotopia, Hypopla... OMIM:618797
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Elbow dislocation, Delayed cranial suture closure, Large fontanelles ORPHA:2249
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Tenorio Syndrome
Pneumonia, Apnea, Osteopenia, Delayed cranial suture closure, Scoliosis OMIM:616260
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Obstructive sleep apnea, Thin ribs, Brachycepha... OMIM:234100
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Wide anterior fontanel, Turricep... OMIM:601853
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Plagiocephaly, Craniosynostosis, Repeated pneumothoraces, Frontal bossing, Midface retrusion, Pul... ORPHA:536467
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
6Q Terminal Deletion Syndrome
Plagiocephaly, Abnormal cerebral cortex morphology, Colpocephaly, Polymicrogyria, Abnormal cerebr... ORPHA:75857
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:3226
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Optic atrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia of ... ORPHA:192
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Frontal bossing, Wide anterior fontanel, Prominent metopic ridge, Short neck OMIM:614541
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory insufficiency, Cerebellar hypoplasia, Respiratory failure, Secondary m... OMIM:618329
Immunodeficiency 49
Pulmonary artery stenosis, Eosinophilia, Wormian bones, Umbilical hernia OMIM:617237
Alg11-Cdg
Limb hypertonia, Cerebral white matter atrophy, Abnormal cerebral white matter morphology, Gray m... ORPHA:280071
3C Syndrome
Dandy-Walker malformation, Abnormality of neuronal migration, Optic atrophy, Death in infancy, Ap... ORPHA:7
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Hajdu-Cheney Syndrome
Biconcave vertebral bodies, Cervical instability, Foot acroosteolysis, Crowded carpal bones, Kyph... OMIM:102500
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Myopathy, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Turnpenny-Fry Syndrome
Plagiocephaly, Brachycephaly, Frontal bossing, Cavum septum pellucidum, Recurrent respiratory inf... OMIM:618371
Fragile X Syndrome
Macrocephaly, Periventricular heterotopia OMIM:300624
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Skeletal myopathy, Left ventricular hypertrophy, Respiratory failure, ... ORPHA:746
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Ovoid thoracolumbar vertebrae, Thin ribs, Pneumothorax, S... ORPHA:3404
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Myhre Syndrome
Intrauterine growth retardation, Respiratory insufficiency, Vertebral fusion, Thickened calvaria,... OMIM:139210
Cranioectodermal Dysplasia 2