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 2.87×10-10

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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

20 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
Recurrent pneumonia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:619179
Autosomal Dominant Primary Microcephaly
Microcephaly ORPHA:2514
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Atrophy/Degeneration affecting the brainstem, Aspiration... ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Corpus callo... 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
Agyria, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Pachygy... OMIM:615411
Microlissencephaly
Lissencephaly, Cerebral cortical atrophy, Pneumonia, Subcortical heterotopia, Polymicrogyria, Per... ORPHA:1083
Lissencephaly 1
Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abnormal cerebral whi... OMIM:607432
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callos... OMIM:608097
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Periventricular lamina... OMIM:611603
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Respiratory ins... OMIM:616081
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... OMIM:611369
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol... OMIM:300717
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... OMIM:300067
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Optic atrophy, Microcephaly, Periventricular nodular heterotopia OMIM:618572
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Respiratory insufficiency, Sclerosis of skull base, Hip contracture, Knee flexion ... OMIM:313420
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respir... ORPHA:370968
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Simplified gyral pattern OMIM:618328
Chudley-Mccullough Syndrome
Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo... OMIM:604213
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Abnormality of neuronal migration, Microcephaly, Macrocephal... OMIM:618709
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... OMIM:611890
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Intrauterine growth reta... ORPHA:1980
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... OMIM:619466
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Death in infancy, Hyperintensity of cerebral whi... OMIM:611722
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation ORPHA:2216
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Abnormal cortical ... OMIM:616867
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebella... OMIM:618677
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Respiratory insufficiency ORPHA:1314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Ce... OMIM:225753
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Cerebral atrophy, Aspiration pneumonia, Intrauterin... OMIM:619057
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Intrauterine growth retardation, Large fontanelles, Short neck, R... ORPHA:1832
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Pulmonary sequestration, Lateral ventricle dilatation, Frontal bossing OMIM:618330
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol... ORPHA:300573
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Lissencephaly 5
Leukoencephalopathy, Optic atrophy, Cerebellar vermis hypoplasia, Occipital encephalocele, Hypopl... OMIM:615191
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench... OMIM:156530
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephal... OMIM:604317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Hypoplasia of the brainstem, Elbow flexion con... OMIM:608840
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Lateral ventricle dilatation, Bic... OMIM:616602
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgy... ORPHA:352682
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Abnormal peripheral... ORPHA:90117
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Cerebral atrophy, Polymicrogyria, Respiratory insufficiency, Intrauterine growth r... OMIM:615330
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Respiratory insufficiency, Camptodactyly of finge... OMIM:614399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:613954
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Microcephaly, Proxi... ORPHA:370980
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Reduced cerebral white matter volume OMIM:618185
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Periven... OMIM:616171
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Neonatal respiratory distress, Neuronal loss in the cerebral cortex, Agenesi... ORPHA:168486
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... OMIM:619773
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Lateral ventric... OMIM:618291
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Progre... ORPHA:2254
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Ullrich Congenital Muscular Dystrophy
Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee flexi... ORPHA:75840
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Recurrent respiratory infections, Plagiocephaly, Agenesis of corpus callosum OMIM:618603
Band Heterotopia
Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Hyperekplexia 4
Umbilical hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Resp... OMIM:618011
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d... OMIM:619602
Combined Oxidative Phosphorylation Deficiency 4
Polymicrogyria, Intrauterine growth retardation, Death in infancy, Microcephaly, Respiratory failure OMIM:610678
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Pterygium, Joint st... ORPHA:2771
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr... OMIM:610967
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly, Hypoplasia of the pons OMIM:607313
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficien... OMIM:245400
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Intellectual Developmental Disorder, Autosomal Dominant 67
Recurrent respiratory infections, Posterior plagiocephaly OMIM:619927
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:... ORPHA:171433
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Spinal muscula... ORPHA:254875
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy, Weakness of facial musculature OMIM:618637
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly OMIM:236795
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis, Agenesis of corpus callosum OMIM:618577
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum OMIM:615433
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S... ORPHA:98905
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss... OMIM:135100
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure, Thin corpus callosum, EMG... OMIM:620326
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... OMIM:259440
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ... ORPHA:970
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly, Hypoplasia of the brainstem OMIM:614563
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory insufficiency, Neonatal death, Microcephaly, Respiratory failure OMIM:610127
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, De... ORPHA:254361
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Mic... OMIM:616212
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt... ORPHA:2512
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ra... OMIM:276950
Hemimegalencephaly
Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heteroto... ORPHA:99802
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne... OMIM:620249
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent... OMIM:608647
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Abnormal l... ORPHA:945
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Immunodeficiency 54
Respiratory insufficiency, Intrauterine growth retardation, Microcephaly, Recurrent respiratory i... OMIM:609981
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration, Microcephaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem OMIM:617751
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Hypoplasia... OMIM:618186
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal deat... OMIM:616342
Malan Overgrowth Syndrome
Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Scaphocephaly, Frontal ... ORPHA:420179
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Agene... ORPHA:89844
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... ORPHA:2759
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure OMIM:616863
Congenital Muscular Dystrophy, Fukuyama Type
Dolichocephaly, Brachycephaly, Plagiocephaly ORPHA:272
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Joint hypermobility ORPHA:2787
Hypophosphatasia
Respiratory insufficiency, Emphysema, Large fontanelles, Abnormal rib morphology, Craniosynostosi... ORPHA:436
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Microcephaly, Respiratory ins... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Death in childhood, Myopathy, Hypoplasia of the corpus callosum, Neona... OMIM:614922
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy, Macrocephaly OMIM:618240
Kleefstra Syndrome 2
Plagiocephaly OMIM:617768
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Plagiocephaly OMIM:618731
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Diffuse white matter abnormalities, Calf muscle pseudohypertrophy, Occipital encep... ORPHA:370959
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, In... ORPHA:1194
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
6Q25 Microdeletion Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:251056
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality ... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Increased variability in muscle fiber diameter, Muscular dystrophy,... OMIM:616538
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Atrophy/Degeneration affecting the brainstem, Agenesis of corpus callosum OMIM:620200
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull OMIM:602849
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Intrauterine growth retardation, Wormian bones, Thin bony cor... OMIM:619795
Craniofrontonasal Dysplasia
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:1520
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:614643
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Thin corpus callosum, Respiratory failure, Death in infancy OMIM:616277
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Plagiocephaly, Hypoplasia of the brainstem ORPHA:500159
Severe Congenital Nemaline Myopathy
Thin ribs, Large fontanelles, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mu... ORPHA:171430
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata... OMIM:245650
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly, Respiratory fai... OMIM:312170
Pentasomy X
Plagiocephaly ORPHA:11
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent pneumonia, Plagiocephaly, Hypoplasia of the pons, Recurrent bronchitis, Frontal bossing OMIM:619293
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616801
Lessel-Kreienkamp Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing OMIM:619149
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Intrauterine growth retardation... OMIM:620327
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... OMIM:263000
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Intrauterine growth retard... ORPHA:86822
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... ORPHA:70589
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... OMIM:610968
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Elbow flexion contracture, Flexion contracture, Multiple joint con... ORPHA:70
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosis,... ORPHA:449280
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Multi... OMIM:259410
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Delayed patellar ossification, Short neck, Abnormality of cranial s... ORPHA:163649
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Intrauterine ... ORPHA:255138
Osteogenesis Imperfecta, Type Iii
Thin ribs, Wide anterior fontanel, Recurrent fractures, Bowing of limbs due to multiple fractures... OMIM:259420
Alg1-Cdg
Limitation of joint mobility, Respiratory failure, Scoliosis, Kyphosis ORPHA:79327
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing OMIM:619721
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Atelectasis, Respiratory insufficiency, Absent muscle fiber mer... ORPHA:258
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification OMIM:618265
Coffin-Siris Syndrome 6
Plagiocephaly, Frontal bossing OMIM:617808
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Polymicrogyria, Respiratory insufficiency, Cerebral calcification, ... OMIM:617397
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616789
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of neurona... ORPHA:2518
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormal optic disc morphology, Aplasia/Hypoplasia of the cere... ORPHA:65
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly OMIM:618821
Prune1-Related Neurological Syndrome
Plagiocephaly ORPHA:544469
Houge-Janssens Syndrome 3
Plagiocephaly, Frontal bossing, Hypoplasia of the brainstem OMIM:618354
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Fle... OMIM:310200
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Brachycephaly, Turricephaly ORPHA:1532
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria OMIM:614483
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly OMIM:618862
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation, Aplasia/Hypopla... ORPHA:2772
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac... OMIM:609220
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Aplasia/Hypoplasia involving the skeletal musculature,... ORPHA:899
Bresek Syndrome
Plagiocephaly, Neonatal death ORPHA:85284
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Short neck, Camptodactyly, Respiratory failure, Prominent metopi... OMIM:618804
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Lateral ventricle dilatation, Brachycephaly, Partial agenesis of the corpus callos... OMIM:617296
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Respiratory insufficiency, Large fontanelles, Multiple rib fractures, W... OMIM:166210
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure ORPHA:70587
Grant Syndrome
Joint dislocation, Large fontanelles, Abnormal cortical bone morphology, Decreased skull ossifica... ORPHA:2097
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Cerebellar hypoplasia, Lower limb amyotrophy, Conf... ORPHA:280210
Houge-Janssens Syndrome 2
Plagiocephaly, Agenesis of corpus callosum OMIM:616362
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:618430
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Thin... OMIM:617952
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly OMIM:618089
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Pneumocystosis
Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ... ORPHA:723
Melnick-Needles Syndrome
Anisospondyly, Craniofacial hyperostosis, Delayed cranial suture closure, Respiratory insufficien... ORPHA:2484
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Allergic Bronchopulmonary Aspergillosis
Emphysema, Cerebral cortical atrophy, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal migration, Gray... OMIM:300049
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Polymicrogyria, Intracerebral periventricular calcifications, Resp... OMIM:608836
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Periventricular heterotopia, Cerebella... OMIM:618273
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Plagiocephaly, Flat occiput OMIM:619383
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly ORPHA:369891
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Plagiocephaly, Pleural effusion, Hypoplasia of the brainstem OMIM:617822
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Hypoplasia of the pons, Bicoronal syno... OMIM:618736
Multiple Mitochondrial Dysfunctions Syndrome 1
Leukoencephalopathy, Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal deat... OMIM:605711
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f... OMIM:231070
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:53271
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Agenesis of corpus callosum, Syringo... OMIM:207950
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Reduced bone mineral density, Wor... OMIM:112240
Leigh Syndrome, Nuclear
Optic atrophy, Respiratory failure, Respiratory insufficiency, Focal substantia nigra T2 hyperint... OMIM:256000
Hypomelanosis Of Ito
Gray matter heterotopia, Microcephaly, Cerebral atrophy, Macrocephaly OMIM:300337
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Intrauterine growth retardation, Pleural effusion, Short ribs, Multipl... OMIM:616897
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Gray matte... OMIM:164180
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce... OMIM:619847
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Secondary microcephaly, Periventricular nodular heterotopia, Intraute... OMIM:619737
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Global brain atrophy, Cerebral atrophy, Abnormal periventricular white matter morphology, Death i... OMIM:615838
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis OMIM:619638
Cole-Carpenter Syndrome 2
Platyspondyly, Thin ribs, Coronal craniosynostosis, Lambdoidal craniosynostosis, Osteopenia, Recu... OMIM:616294
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly, Agenesis of corpus callosum OMIM:619435
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Re... ORPHA:244
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Leukoencephalopathy, Global brain atrophy, Myelopathy, Death in childhood, C... OMIM:617186
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Plagiocephaly, Anterior plagiocephaly, Left unicoronal syno... OMIM:614749
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Frontal bossing, Agenesis of corpus callosum OMIM:619720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Plagiocephaly OMIM:619833
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Atelectasis, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Recu... ORPHA:2314
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Polymicrogyria, Elbow contra... OMIM:617201
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Amyotro... ORPHA:803
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Hypermobility of interphalangeal joints, Wormian bones, Osteoporosis, S... OMIM:613849
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Basal ganglia calcification, Flexion contracture, Respiratory f... OMIM:616505
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Microcephaly, Camptodactyly, Thin corpus callosum, Gray matter heterotopia OMIM:619694
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Dysplastic sacrum, Large fontanelles, Death in childhood, Death ... OMIM:613320
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia o... ORPHA:93274
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Myopathy, Respiratory failure, Cerebral atrophy ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal cerebral morphology, Focal T2 hyperintense basal ganglia lesion, Respiratory failure ORPHA:70472
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Recurrent respiratory infections, Plagiocephaly OMIM:616579
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Respiratory insufficiency, Congenital diaphragmatic hernia, Abnormalit... ORPHA:1166
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Anauxetic Dysplasia 3
Recurrent respiratory infections, Plagiocephaly OMIM:618853
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:617622
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Cerebral cortical atrophy, Recurrent pneumonia, Skeletal muscle atrophy, Secondary... ORPHA:496641
Radio-Renal Syndrome
Chylothorax, Abnormal form of the vertebral bodies, Pleural effusion, Short neck, Abnormal rib mo... ORPHA:3015
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical gyration, Muscular dystr... ORPHA:2671
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Respiratory failure, Wide anterior... OMIM:616482
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Frontal bossing ORPHA:371364
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy, Abnormality of somato... ORPHA:98755
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... OMIM:253310
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Partial agenesis of the... ORPHA:300570
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip... ORPHA:26791
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Horizontal ribs, Short ribs, Pulmonary hypoplasia OMIM:617895
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Umbilical hernia, Increased bone mineral density, Reduced bone mineral density, Ky... OMIM:614856
Thanatophoric Dysplasia
Respiratory insufficiency, Intrauterine growth retardation, Macrocephaly, Gray matter heterotopia... ORPHA:2655
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Microcephaly OMIM:617008
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory failure, Pulmo... ORPHA:36238
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Osteopenia, Recurrent fractures, Decreased skull ossification, Decrease... OMIM:610915
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothorax ORPHA:70588
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures OMIM:619131
Avian Influenza
Pneumonia, Myelitis, Pleural effusion, Rhabdomyolysis, Pneumothorax, Respiratory failure, Miscarr... ORPHA:454836
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing... OMIM:166220
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Neurocutaneous Melanocytosis
Death in infancy, Syringomyelia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... ORPHA:2481
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Microcephaly, Respiratory failure, Cerebral atrophy OMIM:250940
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Death in infancy, Neonatal death, Brachycephaly, Pulmonary hyp... OMIM:259775
Tetrasomy 18P
Abnormality of neuronal migration, Microcephaly ORPHA:3307
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Agenesis of corpus callosum, Prominent occiput OMIM:617360
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Hip contracture, Hypoplasia of the corpus callosum, Mic... OMIM:617301
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Recurrent fractures, Join... ORPHA:2050
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Syringomye... ORPHA:2357
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Agenesis of corpus callosum ORPHA:363528
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis OMIM:620321
Osteogenesis Imperfecta, Type Vii
Osteopenia, Absent pulmonary artery, Delayed cranial suture closure, Recurrent fractures, Death i... OMIM:610682
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Anterior atlanto-oc... ORPHA:536467
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Respiratory f... ORPHA:178320
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Dolichocephaly, Plagiocephaly, Frontal bossing, Lateral ventricle dilatation ORPHA:457279
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Abnormality of the wrist, Large fontanelles, Hyperlordosis, Scoli... ORPHA:2511
Vici Syndrome
Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the pons, Death in infancy, Agenesis of c... ORPHA:1493
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficiency, Myopathy, Death in infancy,... OMIM:615512
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Hyperlordosis, Scoliosis,... OMIM:617821
Joubert Syndrome 1
Plagiocephaly, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar pe... OMIM:213300
Mitochondrial Complex I Deficiency, Nuclear Type 10
Leukoencephalopathy, Optic atrophy, Respiratory failure OMIM:618233
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Wormian bones, Thin bony cortex, Increased bone mineral density, Vertebra... ORPHA:85184
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing, Atrophy/Degeneration affecting the brainstem OMIM:617193
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R... ORPHA:60032
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Decreased calvarial ossification, Multiple rib fractures, Wormian bone... OMIM:616229
Noonan Syndrome 13
Plagiocephaly OMIM:619087
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... ORPHA:3348
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Macrocephaly, Gray matter... OMIM:615219
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Macrocephaly ORPHA:44
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Left ventricular hypertrophy, Respiratory... ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicrogyria, Cerebral calcificati... ORPHA:157
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Pulmonary fibrosis, Abnormal pulmonary interstitial mo... OMIM:612387
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Absent septum pelluc... ORPHA:35107
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Delayed cranial suture closure, Intrauterine growth retardation, Decreased skull ossif... ORPHA:93324
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficiency, Death in child... OMIM:607625
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly ORPHA:261652
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Atelectasis, Death in infancy, Myopathy, Neonatal death OMIM:300219
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly OMIM:619188
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure OMIM:620296
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Neonatal death, Temporal lobe dysplasia, Macrocephaly, Gray matter... OMIM:187600
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Abnormal cerebral white matter m... OMIM:300957
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:300887
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Plagiocephaly ORPHA:251061
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Recurrent respiratory infections ORPHA:320385
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Osteopenia, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypopla... ORPHA:88618
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Congenital hip dislocation, Aspiration pneumonia, Elbow flexion contra... ORPHA:2020
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Hypoplasia o... OMIM:608027
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Osteolysis invol... ORPHA:371428
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle... ORPHA:206436
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Brachycephaly, Elongated supe... OMIM:619512
Pagod Syndrome
Optic atrophy, Pulmonary artery hypoplasia, Encephalocele, Congenital diaphragmatic hernia, Death... ORPHA:991
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol... OMIM:269300
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure OMIM:607598
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel OMIM:601356
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Trisomy 20P
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:261318
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology ORPHA:247262
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior... ORPHA:95717
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Optic atrophy, Death in childhood, Weakness of facial musculature, Increased... OMIM:220110
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Large fontanelles,... OMIM:219150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Joint hypermobility, Wrist fle... ORPHA:254528
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Hypoplasia of the pons, Hypoplasia of the brainstem OMIM:300749
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Joint contracture of the hand, Posterior rib cupping, Short ribs, Short... OMIM:228520
Fg Syndrome Type 1
Craniosynostosis, Plagiocephaly, Prominent occiput ORPHA:93932
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Abnormal basal ganglia morphology, Pneumothorax, Primary microcephaly, Respirat... ORPHA:445038
Snakebite Envenomation
Muscle fiber necrosis, Respiratory failure, Rhabdomyolysis ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory failure ORPHA:70578
Dihydropyrimidinase Deficiency
Plagiocephaly OMIM:222748
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Respiratory insufficiency ORPHA:1895
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly ORPHA:457193
Pycnodysostosis
Coronal craniosynostosis, Spondylolysis, Persistent open anterior fontanelle, Delayed cranial sut... ORPHA:763
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Lateral ventricle dilatation OMIM:619972
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Skeletal muscle atrophy, Respiratory insufficiency, Focal T2 hyperintense ba... OMIM:252010
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Subcortical white matter calcifications, Cerebellar hypoplasia, Diffuse cerebral atrophy, Absent ... ORPHA:3240
Frontonasal Dysplasia 2
Parietal foramina, Calvarial skull defect, Anterior plagiocephaly, Brachycephaly, Craniosynostosis OMIM:613451
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral calcificat... OMIM:620024
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... ORPHA:60025
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Osteoporosis ORPHA:2788
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Abnormal lung lobation, Congenital diaphragmatic hernia, Death in infa... ORPHA:1120
Multiple Pterygium-Malignant Hyperthermia Syndrome
Dolichocephaly, Plagiocephaly ORPHA:2215
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Joint hypermo... ORPHA:2789
Galloway-Mowat Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Abnormality of neuronal migration, Micr... ORPHA:2065
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Parietal Foramina 1
Wormian bones, Encephalocele OMIM:168500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Recurrent pneumonia, Agenesis of corpus callosum, Microcephaly, Ca... ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Xq28 (MECP2) duplication
Brachycephaly, Recurrent respiratory infections, Death in childhood DECIPHER:45
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Partial absenc... OMIM:620371
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Abnormal periventricular white matter morp... OMIM:615960
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Arthritis, Ab... ORPHA:420741
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, Turricephaly OMIM:613776
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Respiratory failure, Right ventricular hypertrophy, Abnormal basal ... ORPHA:444013
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the lungs, Turricephaly ORPHA:2145
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Rh... OMIM:610505
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Massively thickened long bone cortices, Wormian bones, Short... ORPHA:1798
Waardenburg Syndrome Type 3
Microcephaly, Atelectasis, Camptodactyly of finger ORPHA:896
Menkes Disease
Intrauterine growth retardation, Death in childhood, Joint hypermobility, Wormian bones, Osteopor... OMIM:309400
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Optic atrophy, Neuronal loss in basal ganglia, Skeletal m... ORPHA:506
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Delayed cranial suture closure, Facial hyperostosis, Large ... ORPHA:2780
Seckel Syndrome 9
Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Mi... OMIM:616777
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly ORPHA:500055
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Respiratory insufficiency, Camptodactyly of finger, Intrauterine growth retarda... ORPHA:2311
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Joint hypermobility, Pulmonary artery stenosis, Craniosynostosis, Respi... ORPHA:3342
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respirato... OMIM:610978
Pycnodysostosis
Spondylolysis, Persistent open anterior fontanelle, Spondylolisthesis, Wormian bones, Increased b... OMIM:265800
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Osteopenia, Intrauterine growth retardation, Large fontanelles, Joint... OMIM:612940
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Intrauterine growth retardation, Reduc... OMIM:613658
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor... OMIM:300232
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Diffuse white matter abnormalities, Cerebral atrophy, Microcephaly, Limb hypertoni... OMIM:259720
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Midline brain calcifications, Intrauterine growth retardation, Hyp... OMIM:247200
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Delayed cranial suture closure, Os odontoideum, Intrauterine growth retardation, Join... OMIM:616603
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dolichocephaly, Plagiocephaly, Frontal bossing, Death in childhood OMIM:619005
ERI1-related disease
Platyspondyly, Osteopenia, Intrauterine growth retardation, Increased vertebral height, Limited e... OMIM:608739
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure, Microcephaly ORPHA:2707
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormality of the costochondral junction, Large placenta, Short neck, Anterior rib cupping, Coat... ORPHA:96334
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly OMIM:239300
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Cerebral atrophy, Death in childhood, Patent urachus, Respiratory failure OMIM:618252
Acrocallosal Syndrome
Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... ORPHA:36
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly OMIM:615471
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Large font... OMIM:603116
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory insufficiency, Secondary microcephaly, Cerebellar hypoplasia, Respirat... OMIM:618329
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
Nijmegen Breakage Syndrome
Recurrent pneumonia, Skeletal muscle atrophy, Abnormality of neuronal migration, Microcephaly, Re... ORPHA:647
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic dis... ORPHA:468631
Cleidocranial Dysplasia
Genu valgum, Large fontanelles, Decreased skull ossification, Wormian bones, Abnormal rib morphol... ORPHA:1452
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Large fontanelles, Elbow dislocation, Delayed cranial suture closure ORPHA:2249
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:610759
Craniosynostosis 2
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Metopic synostosis, Craniosynostosis OMIM:604757
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Plagiocephaly, Pleural effusion ORPHA:453499
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Elbow flexion co... OMIM:300868
Fanconi Renotubular Syndrome 5
Emphysema, Hypophosphatemic rickets, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Saethre-Chotzen Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Agenesis of corpus callosum, Brachycephaly, Abnormal shape of the occiput, Fr... OMIM:218350
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Polymicrogyria, Macrocephaly, Gray matter heterotopia, Macroglossia... OMIM:619775
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency OMIM:613845
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency OMIM:609015
Joubert Syndrome
Cerebellar vermis hypoplasia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Encephal... ORPHA:475
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia, Camptodactyly of... OMIM:175700
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing ORPHA:2612
Atelosteogenesis Type Ii
Plagiocephaly, Pulmonary hypoplasia ORPHA:56304
Nestor-Guillermo Progeria Syndrome
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... OMIM:614008
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic... OMIM:614105
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Frontal bossing, Turricephaly OMIM:613603
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Hyperlordosis, Respiratory i... ORPHA:365
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, Hypoplasia of the brainstem OMIM:254940
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Short neck, Wide anterior fontanel, Prominent metopic ridge OMIM:614541
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Agenesis of corpus callosum OMIM:613457
Mercury Poisoning
Interstitial pneumonitis, Abnormal cerebral white matter morphology, Respiratory failure ORPHA:330021
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Respiratory failure, Right ventricular hypertrophy, Anomalous pu... ORPHA:555874
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Tenorio Syndrome