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Gene: Lmnb1 MGI:96795

Gene Summary

Name:

lamin B1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased body weight		Lmnb1^{tm1a(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

View images

Legacy Phenotype Associated Images

Lmnb1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

View all 328 images

Lmnb1^{tm1a(EUCOMM)Wtsi}
mesenteric lymph node, adrenal gland, HET, Male, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
epididymis, testis, prostate gland lobe, seminal vesicle, HET, Male, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
sternum, HET, Male, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
salivary gland, pancreas, HET, Male, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
spinal cord, HET, Male, WTSI

View all 53 images

Lmnb1^{tm1a(EUCOMM)Wtsi}
polydactyly, HET, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 23 images

Lmnb1^{tm1a(EUCOMM)Wtsi}
right eye, WT, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
left eye, WT, Female, WTSI

Lmnb1^{tm1a(EUCOMM)Wtsi}
back skin, WT, Female, WTSI

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.

Human diseases associated with Lmnb1 (4 diseases)
Human diseases predicted to be associated with Lmnb1 (721 diseases)

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

Disease	Matching phenotypes	Source
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas...	OMIM:619179
Autosomal Dominant Primary Microcephaly	Microcephaly	ORPHA:2514
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal cerebellar peduncle morphology, Aspiration pneumonia, Atrophy/Degeneration affecting the...	ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Diffuse leukoencephalopathy, Autonomic bladder dysfunction, Autonomic er...	OMIM:169500

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

Disease	Matching phenotypes	Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Thin corpus callosum, Gray matter...	OMIM:615411
Microlissencephaly	Thick cerebral cortex, Subcortical heterotopia, Pneumonia, Cerebral dysmyelination, Periventricul...	ORPHA:1083
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Abnormal cere...	OMIM:607432
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst...	OMIM:600561
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Microcephaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Spinal muscular atrophy, Respiratory insufficiency, Proximal am...	OMIM:253300
Lissencephaly 3	Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray...	OMIM:611603
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Spinal muscular atrophy, Respiratory insuf...	OMIM:616081
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ...	OMIM:611369
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia, Microcephaly	OMIM:618572
Developmental And Epileptic Encephalopathy 71	Simplified gyral pattern, Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ...	OMIM:611722
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer...	OMIM:604213
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Multiple joint contracture...	ORPHA:370968
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:618677
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Large fontanelles, Respiratory failure, Intrauterine g...	ORPHA:1832
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Macrocephaly, Abnormal corpu...	OMIM:618709
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Microcephaly, Paucity of anterio...	OMIM:611890
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Cerebral calcification, Abnormality of neuronal migration, Micro...	ORPHA:1980
Congenital Myopathy 14	Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Microcephaly, Achilles tendon contractu...	OMIM:606612
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ...	OMIM:615348
Symmetrical Thalamic Calcifications	Cerebral calcification, Abnormality of neuronal migration, Respiratory insufficiency, Microcephaly	ORPHA:1314
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Abnormal cortical gyration, Spinal muscul...	OMIM:616867
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ...	OMIM:225753
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty replacement of skeletal muscle, Achi...	ORPHA:370980
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy	OMIM:613869
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Optic atrophy, Cerebral atrophy, Respiratory failure, Aspiration p...	OMIM:619057
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi...	OMIM:614399
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Perisylvian polymicrogy...	ORPHA:300573
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Subcortical band heterotopia, Optic atroph...	OMIM:615191
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Cupped...	OMIM:156530
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Pulmonary sequestration	OMIM:618330
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:459074
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra...	OMIM:604317
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Abnormality of neuronal mig...	OMIM:608840
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Lateral ventricl...	OMIM:616602
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cerebral cortex, Respira...	ORPHA:168486
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Optic atrophy, Gray matter heterotopia, Dysgyria, Hypoplasia of the brai...	ORPHA:352682
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Hypoplasia of the pons, Optic atrophy, Congenital laryngeal stridor, Deg...	ORPHA:2254
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Optic atrophy, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Hy...	OMIM:615330
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Multiple joint contractures...	OMIM:618291
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Microcephaly, Partial age...	OMIM:616171
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly	ORPHA:1665
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, U...	OMIM:618011
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum...	OMIM:618577
Band Heterotopia	Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Congenital Muscular Dystrophy, Ullrich Type	Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contracture, Hip disloc...	ORPHA:75840
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn...	ORPHA:98913
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Recurrent respiratory infections, Agenesis of corpus callosum, Brachycephaly	OMIM:618603
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Microcephaly, Respiratory failure, Intrauterine growth retardation, Polymicrogyria	OMIM:610678
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Brachycephaly, Plagiocephaly, Dolichocephaly, Agenesis of corpus callosum, Decrea...	OMIM:615433
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond...	OMIM:604320
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo...	ORPHA:2771
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Hypoplasia of the pons, Plagiocephaly	OMIM:607313
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficien...	OMIM:245400
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ...	OMIM:619334
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Scoli...	ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Neonatal d...	OMIM:610127
Intellectual Developmental Disorder, Autosomal Dominant 67	Recurrent respiratory infections, Posterior plagiocephaly	OMIM:619927
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Skeletal muscle atrophy, Internally nucleated skeletal muscle f...	ORPHA:98905
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea...	OMIM:619602
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Weakness of facial musculature, Respiratory failure, Cerebral atrophy	OMIM:618637
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly	OMIM:236795
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,...	ORPHA:171433
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ...	OMIM:620265
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:618774
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal mi...	ORPHA:89844
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles...	ORPHA:254361
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Missing ribs, Dyspnea, Abnormal rib morph...	ORPHA:2759
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den...	ORPHA:970
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly, Hypoplasia of the brainstem	OMIM:614563
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossi...	OMIM:259440
Kleefstra Syndrome 2	Plagiocephaly, Midface retrusion	OMIM:617768
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ...	OMIM:620249
Hemimegalencephaly	Focal cortical dysplasia, Optic atrophy, Hemimegalencephaly, Gray matter heterotopia, Macrocephal...	ORPHA:99802
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Microcephaly, Partial agenesis of the corpus callosum, S...	OMIM:616212
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Hao-Fountain Syndrome	Cryptorchidism, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Vacterl Association With Hydrocephalus	Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral co...	OMIM:276950
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Colpocephaly, Midface retrusion	OMIM:618731
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Abnormal lung lobation, Abnormality of neuronal migration, ...	ORPHA:945
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Immunodeficiency 54	Recurrent respiratory infections, Microcephaly, Respiratory insufficiency, Respiratory failure, I...	OMIM:609981
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Microcephaly, Flexion contract...	OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Hypoplasia of the brainstem, Recurrent pneumonia, Lateral ventricle dilatation	OMIM:617751
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly	OMIM:618672
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Arthrogrypo...	OMIM:616342
Malan Overgrowth Syndrome	Frontal bossing, Scaphocephaly, Plagiocephaly, Hypoplasia of the brainstem, Lateral ventricle dil...	ORPHA:420179
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Scedosporiosis	Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab...	ORPHA:449280
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Thin corpus callosum	OMIM:616277
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Brachycephaly, Dolichocephaly	ORPHA:272
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Joint hyperflexibility, Osteoporosis	ORPHA:2787
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Myopathy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, D...	OMIM:614922
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre...	OMIM:606071
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy, Macrocephaly	OMIM:618240
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ...	ORPHA:370959
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion	OMIM:602849
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Myelomeningocele, Meningocele, Partial agenesi...	ORPHA:101030
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g...	OMIM:312170
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Microcephaly, Flexion contracture, Aplasia/Hypoplasia ...	ORPHA:1194
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
6Q25 Microdeletion Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:251056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Cerebral calcification, Respiratory failure, Muscular dystrophy, Hy...	OMIM:616538
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra...	ORPHA:258
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon...	OMIM:619795
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Opti...	OMIM:614643
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Craniofrontonasal Dysplasia	Plagiocephaly, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:1520
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon...	OMIM:310200
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Cryptorchidism, Hypoplasia of the brainstem, Recurrent pneumonia	ORPHA:500159
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Hypoplasia of the pons, Cryptorchidism, Recurrent pneumonia, Plagiocephaly, Recu...	OMIM:619293
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Scoliosi...	OMIM:619751
Dihydropyrimidinase Deficiency	Plagiocephaly	OMIM:222748
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Respiratory insufficiency, Pulmonary hypoplasia, N...	OMIM:245650
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Large fontanelles, Thin ribs, Respiratory failu...	ORPHA:171430
Pentasomy X	Plagiocephaly	ORPHA:11
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:619721
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Cervical myelopathy, Gray matter heterotopia, Syringomyelia, Limb...	OMIM:207950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:616801
Bresek Syndrome	Neonatal death, Cryptorchidism, Plagiocephaly, Decreased testicular size	ORPHA:85284
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ...	ORPHA:86822
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Cryptorchidism, Frontal bossing, Brachycephaly	OMIM:616789
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure, Cerebellar hypoplasia, Intrauterine growth retardati...	OMIM:620327
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Vertebral wed...	OMIM:610968
Glutathionuria	Gray matter heterotopia, Asthma, Agenesis of corpus callosum	OMIM:231950
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Lessel-Kreienkamp Syndrome	Plagiocephaly, Frontal bossing, Scaphocephaly	OMIM:619149
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Walker-Warburg Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pach...	ORPHA:899
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar...	ORPHA:70588
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly	OMIM:617481
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor...	ORPHA:163649
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Periventricular cysts, Corticospinal tract hypoplasia, Hypoplasia of...	ORPHA:255138
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Unilateral cryptorchidism, Brachycephaly	OMIM:618862
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f...	OMIM:620278
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Frontal bossing, Brachycephaly, Midface retrusion	OMIM:618430
Alg1-Cdg	Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis	ORPHA:79327
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Plagiocephaly, Abnormal lung lobation	ORPHA:2063
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Optic atrophy, Abnormality of neuronal migration, Biparietal narrowing, Aplasia/Hyp...	ORPHA:2518
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Coffin-Siris Syndrome 6	Plagiocephaly, Frontal bossing	OMIM:617808
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Decreased calvarial ossification, Plagiocephaly, Craniosynostosis	OMIM:618265
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral calcification, Microcephaly, Respiratory insufficie...	OMIM:617397
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Abnormality of neuronal mi...	ORPHA:2772
Brain Small Vessel Disease 2	Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria	OMIM:614483
Leber Congenital Amaurosis	Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypopla...	ORPHA:65
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Cryptorchidism, Brachycephaly, Midface retrusion	ORPHA:369891
Houge-Janssens Syndrome 3	Plagiocephaly, Frontal bossing, Hypoplasia of the brainstem	OMIM:618354
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphys...	ORPHA:1164
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly	OMIM:618821
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Short neck, Delayed epiphyseal ossification, Tachypnea, Large fontanelles, Flat...	OMIM:613320
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, L...	OMIM:166210
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormi...	OMIM:617952
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r...	ORPHA:803
Pelizaeus-Merzbacher Disease, Connatal Form	Abnormal morphology of musculature of pharynx, Confluent hyperintensity of cerebral white matter ...	ORPHA:280210
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Leukoencephalopathy, Respiratory insufficiency, Respiratory failure, Neonatal d...	OMIM:605711
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Short neck, Respiratory failure, Camptodactyly, Intrauterine growth reta...	OMIM:618804
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Intracerebral periventricular calcifications, Ap...	OMIM:608836
Grant Syndrome	Joint dislocation, Large fontanelles, Abnormal rib morphology, Decreased skull ossification, Join...	ORPHA:2097
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Periventricular nodular heterotopia, Macrocephaly	OMIM:620065
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Plagiocephaly, Lateral v...	OMIM:617296
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Myelitis	ORPHA:71211
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly	OMIM:618089
Hogue-Janssen Syndrome 2	Plagiocephaly, Agenesis of corpus callosum	OMIM:616362
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb...	OMIM:113000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Torticollis, Myelopathy, Cerebral edema, Leukoencephalopathy, Cerv...	OMIM:617186
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Pulmonary Alveolar Microlithiasis	Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T...	ORPHA:60025
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Wide anterior fontanel, Kyphosis, Plat...	OMIM:616482
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar hypoplasia, Hypoplasia of ...	OMIM:300049
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormality of the elbow, Abnormal rib morphology, Abn...	ORPHA:3015
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Thick corpus callosum, Simplified gyra...	OMIM:618273
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Fractured radius, Short neck, Multiple prenatal fractures, Be...	OMIM:616897
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal...	OMIM:615838
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperint...	OMIM:256000
Melnick-Needles Syndrome	Recurrent respiratory infections, Craniofacial hyperostosis, Anisospondyly, Hip dislocation, Abno...	ORPHA:2484
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Syringomyelia, Cough...	ORPHA:2357
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Pleural effusion, Hypoplasia of the brainstem, Kinked brainstem	OMIM:617822
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Apnea, Craniosynostosis, Vertebral clefting, ...	OMIM:241500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Recurrent respiratory infections, Flat occiput	OMIM:619383
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Respiratory failure	OMIM:618233
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Cryptorchidism, Agenesis of corpus callosum, Brachycephaly	OMIM:619435
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Frontal bossing, Agenesis of corpus callosum, Midface retrusion	OMIM:619720
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Anauxetic Dysplasia 3	Plagiocephaly, Recurrent respiratory infections, Midface retrusion	OMIM:618853
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Hypomelanosis Of Ito	Gray matter heterotopia, Macrocephaly, Cerebral atrophy, Microcephaly	OMIM:300337
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:164180
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res...	ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
Spondylometaphyseal Dysplasia, Pagnamenta Type	Wormian bones, Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, A...	ORPHA:98755
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Respiratory fai...	OMIM:619847
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi...	ORPHA:2314
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc...	OMIM:112240
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Joubert Syndrome 30	Gray matter heterotopia, Tachypnea, Apnea, Dandy-Walker malformation	OMIM:617622
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cerebral calcific...	ORPHA:2671
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Colpocephaly	OMIM:619833
Sarcoidosis, Susceptibility To, 2	Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ...	OMIM:612387
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdo...	OMIM:616294
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Plagiocephaly, Anterior plagiocephaly, Peripheral pulmonary artery st...	OMIM:614749
Periventricular Nodular Heterotopia 7	Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con...	OMIM:617201
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Knee flexion contracture, Gray matter heterotopia, Camptodactyly, Thin corpus callosum	OMIM:619694
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Respiratory insufficiency, Aplasia/Hypoplasia o...	ORPHA:93274
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Respiratory failure, Caudate atrophy, Cerebral atrophy	ORPHA:363400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Short ribs, Pulmonary hypoplasia, Horizontal ribs	OMIM:617895
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology	ORPHA:70472
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Basal ganglia calcification, Flexion contracture, Optic atrophy, Respiratory failure, Distal amyo...	OMIM:616505
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Wormian bo...	OMIM:613849
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Microcephaly, Flexion contracture, Optic atrophy, Elbow flexion contractu...	OMIM:617301
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Microcephaly, Respiratory insufficiency, Abnormality of the pulm...	ORPHA:1166
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callos...	OMIM:300887
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Recurrent respiratory infections	OMIM:616579
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Frontal bossing	ORPHA:371364
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Skeletal muscle atrophy, ...	ORPHA:496641
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel...	OMIM:300219
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Plagiocephaly, Lateral ventricle dilatation, Dolichocephaly, Midface retrusion	ORPHA:457279
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m...	OMIM:614856
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Partial agenesis of the corpus callosum, Plagiocephaly, Hypoplasia of the brainstem...	ORPHA:300570
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a...	OMIM:610915
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility	OMIM:619131
Raine Syndrome	Death in infancy, Brachycephaly, Plagiocephaly, Pulmonary hypoplasia, Neonatal death, Brachyturri...	OMIM:259775
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration, Syringomyelia, Aplasia/Hypoplas...	ORPHA:2481
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Ankle flexion cont...	ORPHA:2020
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Cryptorchidism, Agenesis of corpus callosum	ORPHA:363528
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Skeletal muscle atrophy, Respiratory i...	OMIM:615512
Thanatophoric Dysplasia	Respiratory insufficiency, Gray matter heterotopia, Pulmonary hypoplasia, Macrocephaly, Intrauter...	ORPHA:2655
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Episodic tachypnea, Ab...	ORPHA:475
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P...	OMIM:253310
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep...	OMIM:220110
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Multifocal hyperintensi...	ORPHA:308552
Holoprosencephaly-Craniosynostosis Syndrome	Plagiocephaly, Brachycephaly, Craniosynostosis	ORPHA:2163
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Decreased calvarial ossific...	OMIM:616229
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent occiput, Plagiocephaly, Agenesis of corpus callosum	OMIM:617360
Desmosterolosis	Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Abnormality of neuronal migra...	ORPHA:35107
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Wormian bones, Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Kleefstra Syndrome Due To A Point Mutation	Plagiocephaly, Brachycephaly, Midface retrusion	ORPHA:261652
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea, Le...	ORPHA:444013
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec...	OMIM:620296
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Retractile testis, Atrophy/Degeneration affecting the brainstem	OMIM:617193
Noonan Syndrome 13	Plagiocephaly, Cryptorchidism	OMIM:619087
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Hyperlordosis, Large fontanelles, Scoliosis, Abnormality of the wrist, Delayed cranial suture clo...	ORPHA:2511
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Aqueductal stenosis, Cryptorchidism, Partial agenesis of the corpus callosum, Hy...	OMIM:619512
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Death in infancy, Recurrent fractures, ...	OMIM:610682
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Vici Syndrome	Recurrent respiratory infections, Death in infancy, Hypoplasia of the pons, Optic atrophy, Gray m...	ORPHA:1493
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Wormi...	ORPHA:85184
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo...	ORPHA:2050
Snakebite Envenomation	Epistaxis, Rhabdomyolysis, Respiratory failure, Muscle fiber necrosis, Respiratory paralysis	ORPHA:449285
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox...	ORPHA:2140
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration, Macrocephaly	ORPHA:44
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification, Pachygyria, ...	ORPHA:157
Joubert Syndrome 1	Brainstem dysplasia, Plagiocephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongat...	OMIM:213300
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:615524
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Repeat...	ORPHA:536467
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Microcepha...	ORPHA:209905
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Decreased...	ORPHA:93324
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Cryptorchidism, Midface retrusion, Dolichocephaly	ORPHA:2215
Pycnodysostosis	Joint laxity, Increased bone mineral density, Persistent open anterior fontanelle, Hyperlordosis,...	ORPHA:763
Trisomy 20P	Frontal bossing, Cryptorchidism, Brachycephaly, Plagiocephaly, Dolichocephaly, Macroorchidism	ORPHA:261318
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficien...	OMIM:607625
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Cryptorchidism, Large fontanelles, Hip dislocat...	OMIM:219150
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lis...	OMIM:615219
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Arthritis	OMIM:620321
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal ...	OMIM:300957
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly	OMIM:619188
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Cryptorchidism, Metopic synostosis, Camptodactyly of toe, Umbilical hernia, Joi...	OMIM:175700
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, A...	OMIM:259600
S-Adenosylhomocysteine Hydrolase Deficiency	Microcephaly, Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia, Hypoplasia of t...	ORPHA:88618
Seckel Syndrome 9	Recurrent respiratory infections, Congenital diaphragmatic hernia, Microcephaly, Asthma, Simplifi...	OMIM:616777
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Cryptorchidism, Craniosynostosis	ORPHA:457193
Craniometadiaphyseal Dysplasia	Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Broad ribs, Scoliosis, ...	OMIM:269300
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Platyspondyly	OMIM:601356
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Knee flex...	OMIM:618733
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita	OMIM:607598
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Temporal lobe dysplasia, Gray matter heterotopia, Pulmonary hypopl...	OMIM:187600
Fg Syndrome Type 1	Prominent occiput, Cryptorchidism, Plagiocephaly, Craniosynostosis	ORPHA:93932
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure	ORPHA:2707
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Brachycephaly, Midface retrusion	OMIM:618644
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Men...	ORPHA:991
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Tachypnea, Abnormality...	ORPHA:2318
7Q31 Microdeletion Syndrome	Plagiocephaly, Recurrent respiratory infections	ORPHA:251061
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Hyperphosphatasia-Intellectual Disability Syndrome	Plagiocephaly, Abnormal parietal bone morphology, Brachycephaly	ORPHA:247262
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Apnea, Microcephaly, Weakness of facial musculature, Flexion contra...	ORPHA:98889
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Hypoplasia of the pons, Hypoplasia of the brainstem, Plagiocephaly	OMIM:300749
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Skeletal muscle atrophy, Apnea, Optic neuropathy, Microcepha...	OMIM:252010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Large placenta, Flexion contracture, Respiratory failure, Coat hanger sign of ribs,...	ORPHA:254528
Frontonasal Dysplasia 2	Craniosynostosis, Bilateral cryptorchidism, Parietal foramina, Calvarial skull defect, Brachyceph...	OMIM:613451
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Hyperlordosis, Cryptorchidism, Ky...	ORPHA:2789
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Fibrochondrogenesis 1	Anterior rib cupping, Short neck, Wide anterior fontanel, Thin ribs, Widely patent coronal suture...	OMIM:228520
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Camptodactyly of finger, Microcephaly	ORPHA:896
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Cryptorchidism, Turricephaly, Midface retrusion	OMIM:620224
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1895
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Interstitial pneumoniti...	ORPHA:330021
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira...	ORPHA:365
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Leuko...	OMIM:620024
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Respiratory failure, Primary m...	ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory insuffici...	OMIM:610505
Arterial Tortuosity Syndrome	Respiratory distress, Craniosynostosis, Dyspnea, Pulmonary artery stenosis, Hip dislocation, Card...	ORPHA:3342
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Wormian bones	ORPHA:2788
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Midface retrusion	OMIM:239300
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly	OMIM:619680
Parietal Foramina 1	Encephalocele, Wormian bones	OMIM:168500
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Turricephaly, Plagiocephaly, Brachycephaly	OMIM:613776
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h...	ORPHA:563
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Neuronal loss in basal gang...	ORPHA:506
Galloway-Mowat Syndrome	Camptodactyly of finger, Microcephaly, Abnormality of neuronal migration, Intrauterine growth ret...	ORPHA:2065
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira...	OMIM:613658
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Abnormal periventricular white matter morphology, Cerebellar vermis hypo...	OMIM:615960
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo...	OMIM:614008
Tenorio Syndrome	Osteopenia, Joint laxity, Apnea, Recurrent pneumonia, Scoliosis, Delayed cranial suture closure	OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Large posterior fontanelle, D...	ORPHA:95717
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Spina bifida, Congenital diaphragmatic hernia, Abnormal lung lobation, Respirat...	ORPHA:1120
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,...	ORPHA:555874
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Flexion contracture, Hemivertebrae, Interphalangeal joint contracture of finger, Cryp...	ORPHA:96334
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Cryptorchidism, Brachycephaly	ORPHA:500055
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Hyperlordosis, Large fontanelles, Osteopetrosis, Scoliosis, Facia...	ORPHA:2780
Poliomyelitis	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Abnormal motor nerve...	ORPHA:2912
Menkes Disease	Joint laxity, Osteoporosis, Death in childhood, Wormian bones, Intrauterine growth retardation	OMIM:309400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in...	OMIM:613845
Miller-Dieker Lissencephaly Syndrome	Microcephaly, Midline brain calcifications, Gray matter heterotopia, Joint contracture of the han...	OMIM:247200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Cryptorchidism, Plagiocephaly, Death in childhood, Dolichocephaly	OMIM:619005
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Dysostosis, Stanescu Type	Increased bone mineral density, Wormian bones, Persistent open anterior fontanelle, Short neck, H...	ORPHA:1798
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Osteolytic defects of the di...	OMIM:265800
Cleidocranial Dysplasia	Recurrent respiratory infections, Sinusitis, Recurrent fractures, Abnormal sacrum morphology, Spi...	ORPHA:1452
Schisis Association	Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Microcephaly, Anencephaly	ORPHA:63862
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Plagiocephaly, Agenesis of c...	OMIM:613457
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Short neck, Cryptorchidism, Wide anterior fontanel, Wormian bones	OMIM:614541
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Cryptorchidism, Frontal bossing, Brachycephaly	OMIM:610759
Atelosteogenesis Type Ii	Plagiocephaly, Pulmonary hypoplasia, Midface retrusion	ORPHA:56304
Saethre-Chotzen Syndrome	Plagiocephaly, Cryptorchidism, Brachycephaly, Craniosynostosis	ORPHA:794
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Frontal bossing, Turricephaly, Plagiocephaly	OMIM:613603
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Large fontanelles, Scoliosis, Wormian bones, Intrauterine...	OMIM:612940
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Microcephaly, Diffuse white matter abnormalities, Optic atrophy,...	OMIM:259720
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Congenital diaphragmatic hernia, Microcephaly, Meningocele, Anomalous pu...	ORPHA:2311
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Respiratory failure, Cerebellar hy...	ORPHA:3240
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Hip dislocation, Wormian bones, Intrauterine growth ret...	OMIM:616603
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion con...	OMIM:300232
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Cerebral atrophy, Hypopnea, Respiratory failure, Secondary microcephaly,...	OMIM:617248
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Plagiocephaly, Cryptorchidism, Pleural effusion, Craniosynostosis	ORPHA:453499
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Cryptorchidism, Camptodactyly of finger	ORPHA:2863
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Periventricular heterotopia, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:614105
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly	OMIM:615471
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Enlargement of the costochondral j...	ORPHA:289157
Acrocallosal Syndrome	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Aplasia...	ORPHA:36
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory...	OMIM:615636
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory insufficiency, Respiratory failure, Secondary microcephaly, Cerebellar...	OMIM:618329
Potocki-Shaffer Syndrome	Wormian bones	OMIM:601224
Ulna Hypoplasia-Intellectual Disability Syndrome	Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness	ORPHA:2249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Hip contracture, Absent septum pellucidum, Microcephaly, Flexion contracture, E...	OMIM:300868
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Cryptorchidism, Hypoplasia of the brainstem	OMIM:254940
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, M...	OMIM:619775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern...	ORPHA:468631
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short ribs, Lambdoidal craniosynostosis, ...	OMIM:603116
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis	ORPHA:85199
Geleophysic Dysplasia 3	Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory failure	OMIM:617809
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency	OMIM:609015
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Rh...	ORPHA:647
Alg12-Cdg	Recurrent respiratory infections, Cryptorchidism, Recurrent pharyngitis, Recurrent pneumonia, Pos...	ORPHA:79324
Linear Nevus Sebaceus Syndrome	Prominent occiput, Frontal bossing, Plagiocephaly, Biparietal narrowing	ORPHA:2612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Opitz-Kaveggia Syndrome	Plagiocephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Frontal bossing	OMIM:305450
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Spina bifida, Delayed closure of the anterior font...	OMIM:304120
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Cryptorchidis...	ORPHA:2554
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis	OMIM:604757
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Cerebral atrophy, Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dyspla...	OMIM:615287
3C Syndrome	Recurrent respiratory infections, Death in infancy, Optic atrophy, Abnormality of neuronal migrat...	ORPHA:7
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul...	ORPHA:746
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Posterior plagiocephaly, Brachycephaly	OMIM:617798
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Brachycephaly, Midface retrusion	OMIM:618268
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly	OMIM:619227
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Periventricular heterotopia	OMIM:618974
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Cryptorchidism, Brachycephaly	ORPHA:495818
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Optic disc coloboma, Abnormality of...	ORPHA:1454
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Brachycephaly, Aspiration pneumonia	OMIM:301072
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpu...	OMIM:618797
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly	OMIM:615656
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Abnormal ...	ORPHA:280071
Schwartz-Jampel Syndrome	Apnea, Short neck, Wrist flexion contracture, Death in infancy, Increased bone mineral density, A...	ORPHA:800
Adnp Syndrome	Cryptorchidism, Recurrent upper respiratory tract infections, Brachycephaly, Plagiocephaly, Trigo...	ORPHA:404448
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation	OMIM:614450
Bohring-Opitz Syndrome	Neonatal respiratory distress, Microcephaly, Flexion contracture, Gray matter heterotopia, Hypopl...	OMIM:605039
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Aspiration, Colpocephaly, De...	OMIM:618651
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification, Intracerebra...	ORPHA:228308
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Meningocele, Sclerosis of skull base, Sco...	OMIM:130720
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Abnormal lung lobation, Frontal bossing, Agenesis of corpus callosum	ORPHA:2538
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick cerebral cortex, Decreased muscle mass, Progressive microcephaly, Lissencephaly, Cerebellar...	ORPHA:357074
Fragile X Syndrome	Macrocephaly, Periventricular heterotopia	OMIM:300624
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Delayed closure of th...	ORPHA:2962
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Cryptorchidism, Colpocephaly	OMIM:620083
Coffin-Lowry Syndrome	Death in early adulthood, Skeletal muscle atrophy, Microcephaly, Optic atrophy, Abnormality of ne...	ORPHA:192
Fibrochondrogenesis	Plagiocephaly	ORPHA:2021
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ...	ORPHA:357058
Au-Kline Syndrome	Craniosynostosis, Sagittal craniosynostosis, Cryptorchidism, Plagiocephaly, Dolichocephaly	OMIM:616580
Grant Syndrome	Wormian bones	OMIM:138930
Cranioectodermal Dysplasia 2	Frontal bossing, Cloverleaf skull, Craniosynostosis, Recurrent pneumonia, Plagiocephaly, Dolichoc...	OMIM:613610
Thanatophoric Dysplasia Type 1	Aplasia/Hypoplasia of the lungs, Gray matter heterotopia, Respiratory insufficiency, Macrocephaly	ORPHA:1860
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Frontal bossing, Pulmonary artery stenosis, Brachycephaly, Hydrocele testis, Plagiocephaly, Perip...	OMIM:280000
Antley-Bixler Syndrome	Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Abnormal rib mor...	ORPHA:83
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin ...	OMIM:618188
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumbar vertebral bodie...	OMIM:102500
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Cryptorchidism, Humeroradial synostosis, Pneumothorax, Ovoid th...	ORPHA:3404
Listeriosis	Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory f...	ORPHA:533
Cleidocranial Dysplasia 1	Respiratory distress, Increased bone mineral density, Persistent open anterior fontanelle, Neonat...	OMIM:119600
Neurofaciodigitorenal Syndrome	Plagiocephaly, Cryptorchidism, Brachycephaly	ORPHA:2673
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Agenesis of corpus callosum, Olivopontocerebellar hypoplasia	ORPHA:457284
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti...	OMIM:259100
Farber Disease	Respiratory distress, Abnormality of the knee, Nodular pattern on pulmonary HRCT, Atelectasis, Re...	ORPHA:333
Aymé-Gripp Syndrome	Plagiocephaly, Cryptorchidism, Brachycephaly, Craniosynostosis	ORPHA:1272
Myhre Syndrome	Vertebral fusion, Joint stiffness, Short neck, Cryptorchidism, Limitation of joint mobility, Resp...	OMIM:139210
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ...	ORPHA:314679
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Thoracic...	OMIM:602535
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Neonatal respiratory distress, Aplasia/Hypoplasia of the corpus callosum, Deat...	OMIM:214100
Ogden Syndrome	Cryptorchidism, Pulmonary artery stenosis, Scoliosis, Delayed cranial suture closure	ORPHA:276432
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, E...	ORPHA:31204
Arboleda-Tham Syndrome	Recurrent respiratory infections, Frontal bossing, Craniosynostosis, Bilateral cryptorchidism, Pl...	OMIM:616268
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Intermittent hyperventilation, Abnormality of neuronal migration, A...	ORPHA:163681
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Bilateral cryptorchidism, Osteoporosis, Small anterior fontanelle, ...	ORPHA:2409
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Atelectasis...	OMIM:613177
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Neonatal respiratory distress, Absent septum pellucidum, Periventricular hetero...	OMIM:618870
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Decreased head...	ORPHA:125
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Cryptorchidism, Dolichocephaly	ORPHA:1101
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Delayed cranial suture closure, Wide anterior fontanel, Pneumothorax, Recurrent pne...	ORPHA:90349
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he...	ORPHA:2847
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra...	ORPHA:666
Gapo Syndrome	Plagiocephaly, Frontal bossing	OMIM:230740
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Holoprosencephaly	Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Spinal cord tumor, R...	ORPHA:2162
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Large posterior fontanelle, D...	ORPHA:95716
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Upper airway obstructio...	OMIM:603671
Gomez-Lopez-Hernandez Syndrome	Wormian bones, Wide anterior fontanel, Craniosynostosis	OMIM:601853
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Periventricular leukomalacia, Unilateral lung agenesis, Optic nerve hypopl...	ORPHA:500150
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Wide anterior fontanel, Radial hea...	OMIM:601390
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Macroc...	OMIM:618476
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Congenital diaphragmatic hernia, Microcephaly, Umbilical hernia...	OMIM:219100
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Hennekam-Beemer Syndrome	Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Scoliosis, Delayed cranial suture ...	ORPHA:2135
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Wormian bones, Spina bifida, Hyperlordosis, Cryptorchidism, Rec...	OMIM:234100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Micro...	OMIM:210710
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Agenesis of corpus callosum, Abnormality of neuronal migration, Microcep...	ORPHA:261236
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,...	ORPHA:2636
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic ...	OMIM:608612
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly	OMIM:618548
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly	OMIM:619312
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Cryptorchidism, Posterior plagiocephaly, Lateral ventricle dila...	OMIM:615873
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea, Delayed cranial suture closure	ORPHA:1129
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Hyperextensibility of the knee, Osteoporosis, Thin ribs, Cervical ribs, Oste...	OMIM:601812
Duane Retraction Syndrome	Plagiocephaly	ORPHA:233
Melnick-Needles Syndrome	Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hip d...	OMIM:309350
Chilton-Okur-Chung Neurodevelopmental Syndrome	Frontal bossing, Cryptorchidism, Plagiocephaly, Posterior plagiocephaly, Dolichocephaly, Agenesis...	OMIM:619841
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Macrocephaly, Gray matter heterot...	ORPHA:75857
Immunodeficiency 49	Wormian bones, Umbilical hernia, Pulmonary artery stenosis, Eosinophilia	OMIM:617237
Aicardi Syndrome	Plagiocephaly, Partial agenesis of the corpus callosum	ORPHA:50
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Partial agenesis of the corpus callosum, Dolichocephaly	OMIM:619480
Microphthalmia, Syndromic 9	Diaphragmatic eventration, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveol...	OMIM:601186
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Abnormal lung lobation, Anencephaly, Gray m...	OMIM:236680
Silver-Russell Syndrome 1	Intrauterine growth retardation, Testicular seminoma, Delayed cranial suture closure	OMIM:180860
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Abnormal midbrain morphology	ORPHA:280195
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Cryptorchidism, Wide anterior font...	OMIM:615546
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Wormian bones, Genu recurvatum, Delayed cranial suture closure, Hip dis...	ORPHA:90348
Hajdu-Cheney Syndrome	Osteopenia, Recurrent respiratory infections, Recurrent fractures, Short neck, Hypoplastic 5th lu...	ORPHA:955
Short-Rib Thoracic Dysplasia 12	Atelectasis, Anencephaly, Respiratory insufficiency, Pulmonary hypoplasia, Macrocephaly, Neonatal...	OMIM:269860
Turnpenny-Fry Syndrome	Plagiocephaly, Recurrent respiratory infections, Frontal bossing, Brachycephaly	OMIM:618371
Saethre-Chotzen Syndrome	Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Skull asymmetry, Lambdoidal craniosy...	OMIM:101400
Degcags Syndrome	Pneumonia, Craniosynostosis, Cryptorchidism, Plagiocephaly, Agenesis of corpus callosum	OMIM:619488
Malignant Atrophic Papulosis	Pleural effusion, Ischemic stroke, Respiratory failure	ORPHA:679
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Frank-Ter Haar Syndrome	Osteopenia, Delayed cranial suture closure, Anterior concavity of thoracic vertebrae, Kyphoscolio...	OMIM:249420
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Abnormality of neuronal migration, Aplas...	ORPHA:2754
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Cryptorchidism, Delayed epip...	OMIM:101200
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas...	OMIM:619179
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Cryptorchidism, Humeroradial synostosis, E...	OMIM:151050
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Frontal bossing, Bilateral cryptorchidism, Cryptorchidism, Dysplastic corpus callosum, Plagioceph...	ORPHA:466791
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Wide anterior fontan...	OMIM:218040
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur...	ORPHA:340
Osteopetrosis With Renal Tubular Acidosis	Plagiocephaly, Thickened calvaria, Brachycephaly	ORPHA:2785
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:1521
Holoprosencephaly 14	Absent septum pellucidum, Periventricular heterotopia, Microcephaly, Partial agenesis of the corp...	OMIM:619895
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Flat acetabular roof, Cryptorchidism	OMIM:617159
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Aspiration pneumonia	ORPHA:444077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Plagiocephaly, Dolichocephaly	OMIM:619475
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Craniosynostosis, Cr...	OMIM:620005
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cryptorchidism, Kyphosis, Cranial hyperostosis, Limitation of joi...	ORPHA:2658
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Optic atrophy, Restrictive ...	ORPHA:538
Man1B1-Cdg	Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Apnea	OMIM:617563
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Frontal bossing, Cryptorchidism, Partial agenesis of the corpus...	OMIM:135900
Dubowitz Syndrome	Sacral dimple, Craniosynostosis, Cryptorchidism, Wide anterior fontanel, Asthma, Respiratory insu...	ORPHA:235
Silver-Russell Syndrome	Cryptorchidism, Scoliosis, Intrauterine growth retardation, Decreased testicular size, Delayed cr...	ORPHA:813
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Respiratory insuffic...	ORPHA:273
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Joint stiffness, Short neck, Large fontanelles, Scoliosis, Osteochondros...	ORPHA:2995
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Macrocephaly, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Ankle flexion contracture, Microcephaly, Abnormality of neuronal migration, Hy...	ORPHA:464311
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe...	ORPHA:90153
Slc35A2-Cdg	Lateral ventricle dilatation, Abnormal midbrain morphology, Craniosynostosis, Atrophy/Degeneratio...	ORPHA:356961
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebr...	OMIM:268310
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly, Biparietal narrowing, Hypoplas...	ORPHA:261250
Abetalipoproteinemia	Osteopenia, Respiratory failure, Kyphoscoliosis	ORPHA:14
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Large fontanelles, Hip dis...	ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Recurrent pneumonia, Scaphocephaly, Brachycephaly, Posterior plagiocephaly, Doli...	OMIM:620330
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Dy...	ORPHA:2556
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Joint stiffness, Flexion contracture, Elbow flexion contracture, Progressive clavicul...	OMIM:248370
Fontaine Progeroid Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Microcephaly, Hypopl...	OMIM:612289
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p...	OMIM:611812
Ring Chromosome 7 Syndrome	Hydrocele testis, Plagiocephaly, Brachycephaly	ORPHA:1449
White-Sutton Syndrome	Joint laxity, Short neck, Wormian bones, Intrauterine growth retardation, Hypoplastic cervical ve...	OMIM:616364
Marbach-Rustad Progeroid Syndrome	Wormian bones, Intrauterine growth retardation, Reduced bone mineral density	OMIM:619322
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli...	ORPHA:63260
Koolen-De Vries Syndrome	Microcephaly, Hypotrophy of the small hand muscles, Gray matter heterotopia, Hypoplasia of the co...	OMIM:610443
Trichorhinophalangeal Syndrome, Type Ii	Recurrent respiratory infections, Bilateral cryptorchidism, Recurrent upper respiratory tract inf...	OMIM:150230
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Anencephaly, Hypoplasia of the bra...	OMIM:616546
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failure	ORPHA:79404
Iniencephaly	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Anencephaly, Spin...	ORPHA:63259
Aicardi-Goutières Syndrome	Plagiocephaly	ORPHA:51
Wrinkly Skin Syndrome	Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Delayed closure of th...	ORPHA:2834
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaph...	ORPHA:2470
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Dislocation of the femoral head, Severe generalized osteoporosis, Kyphoscoliosis...	OMIM:210730
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif...	ORPHA:534
Doors Syndrome	Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Prominent occiput, Aspiration pneumoni...	ORPHA:79500
Vici Syndrome	Recurrent respiratory infections, Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Gra...	OMIM:242840
Faundes-Banka Syndrome	Plagiocephaly, Cryptorchidism, Frontal bossing	OMIM:619376
Niemann-Pick Disease Type C	Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Cerebral atrophy,...	ORPHA:646
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Cerebral edema	ORPHA:319213
Mandibuloacral Dysplasia	Contractures of the large joints, Acroosteolysis of distal phalanges (feet), Osteolytic defects o...	ORPHA:2457
Medulloblastoma	Neoplasm of the lung, Back pain, Delayed cranial suture closure	ORPHA:616
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Metopic suture patent to na...	OMIM:269150
Autosomal Dominant Primary Microcephaly	Microcephaly	ORPHA:2514
Hunter-Macdonald Syndrome	Premature osteoarthritis, Large fontanelles, Umbilical hernia, Scoliosis, Camptodactyly, Cubitus ...	OMIM:611962
Periventricular Nodular Heterotopia 9	Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular...	OMIM:618918
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Wide anterior fontanel...	ORPHA:798
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Plagiocephaly, Midface retrusion	ORPHA:3042
Alg9-Cdg	Prominent metopic ridge, Short neck, Wide anterior fontanel, Asthma, Abnormal lung lobation, Pulm...	ORPHA:79328
Liver Disease, Severe Congenital	Hydrocele testis, Plagiocephaly, Pneumonia, Pulmonary edema	OMIM:619991
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Seco...	OMIM:618820
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Gray matter heterotopia, Branc...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Gray matter heterotopia, Branc...	ORPHA:352665
Ogden Syndrome	Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocation, Apnea, Delayed c...	OMIM:300855
Duplication Of The Pituitary Gland	Brachyturricephaly, Agenesis of corpus callosum, Abnormal midbrain morphology, Midface retrusion	ORPHA:314621
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Joint dislocation, Cryptorchidism, Generalized joint laxity, Pneumothorax, Large fo...	OMIM:601776
Curry-Jones Syndrome	Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital meningocele, Bicoronal syno...	OMIM:601707
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an...	OMIM:278250
Arima Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Dyspnea, Tachypnea, Optic atrophy, G...	OMIM:243910
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Cortical dysplasia, Respiratory failure, Corti...	ORPHA:805
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma	OMIM:276300
Microphthalmia, Syndromic 6	Cryptorchidism, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Midface retrusion	OMIM:607932
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Cerebral atrophy,...	OMIM:311200
22Q11.2 Deletion Syndrome	Spina bifida, Short neck, Atelectasis, Cryptorchidism, Meningocele, Abnormal lung lobation, Asthm...	ORPHA:567
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Mohr Syndrome	Wormian bones, Scoliosis	OMIM:252100
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroorchidism, Umb...	ORPHA:90674
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy...	ORPHA:731
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Joint stiffness, Flexion contracture, Osteolytic defects of the phalanges of the hand...	OMIM:619127
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Decreased skull ossi...	ORPHA:93325
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
Denys-Drash Syndrome	Neonatal death, Neonatal respiratory distress, Congenital diaphragmatic hernia, Posterolateral di...	OMIM:194080
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Microcephaly,...	OMIM:615948
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of anterior horn moto...	ORPHA:79139
Menkes Disease	Osteomyelitis, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperflexibility, Worm...	ORPHA:565
Diamond-Blackfan Anemia 1	11 pairs of ribs, Short neck, Hypoplastic sacral vertebrae, Bifid thoracic vertebrae, Hypoplastic...	OMIM:105650
Zygomycosis	Sinusitis, Epistaxis, Rhinorrhea, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, P...	ORPHA:73263
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip di...	ORPHA:285
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Large fontanelles	OMIM:257850
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Trisomy 10P	Wide cranial sutures, Hemivertebrae, Camptodactyly, Intrauterine growth retardation, Abnormal hip...	ORPHA:171929
Smith-Lemli-Opitz Syndrome	Death in infancy, Diffuse cerebral atrophy, Aganglionic megacolon, Periventricular heterotopia, M...	OMIM:270400
Rubinstein-Taybi Syndrome 1	Joint laxity, Respiratory distress, Delayed cranial suture closure, Spina bifida, Respiratory tra...	OMIM:180849
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem...	ORPHA:444072
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia,...	OMIM:181000
Relapsing Polychondritis	Dyspnea, Atelectasis, Biparietal narrowing, Cough, Abnormal pattern of respiration	ORPHA:728
D-Bifunctional Protein Deficiency	Osteopenia, Large fontanelles, Delayed cranial suture closure	OMIM:261515
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Pneumonia, Abnormal brainste...	ORPHA:68
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Scoliosis, Delayed cranial suture closure	OMIM:618653
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:3186
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Cough, Pleural effusion	OMIM:306400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Short neck, Delayed proximal femoral epiphyseal ossification, Umbilic...	ORPHA:226307
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly	OMIM:613355
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Thoracoabdominal Syndrome	Anencephaly, Pulmonary hypoplasia, Congenital diaphragmatic hernia	OMIM:313850
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosis, Rib fusion,...	ORPHA:1606
Digeorge Syndrome	Pilonidal sinus, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Hydroce...	OMIM:188400
Genitopatellar Syndrome	Hip contracture, Periventricular heterotopia, Microcephaly, Knee flexion contracture, Colpocephal...	OMIM:606170
Mowat-Wilson Syndrome	Pulmonary artery sling, Cryptorchidism, Hydrocele testis, Agenesis of corpus callosum, Anterior p...	ORPHA:2152
Orofaciodigital Syndrome Type 14	Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of...	ORPHA:434179
Coffin-Siris Syndrome 12	Joint laxity, Cryptorchidism, Ridged cranial sutures, Radioulnar synostosis, Scoliosis, Hip sublu...	OMIM:619325
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Myofibrillar myopathy, Abnormal lung lobation, Sirenom...	ORPHA:744
Yunis-Varon Syndrome	Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Anterior concavity...	OMIM:216340
Yunis-Varon Syndrome	Wide cranial sutures, Absent sternal ossification, Cryptorchidism, Hip dislocation, Short ribs, P...	ORPHA:3472
Ayme-Gripp Syndrome	Radioulnar synostosis, Delayed cranial suture closure, Camptodactyly	OMIM:601088
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Aganglionic megacolon, Pulmonary artery sling, Focal hypointensity...	ORPHA:261537
Pallister-Killian Syndrome	11 pairs of ribs, Sacral dimple, Congenital hip dislocation, Kyphoscoliosis, Short neck, Cryptorc...	OMIM:601803
Chand Syndrome	Atelectasis	ORPHA:1401
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Abnormality of the pulmon...	ORPHA:261552
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abnor...	ORPHA:293987
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal cerebellar peduncle morphology, Aspiration pneumonia, Atrophy/Degeneration affecting the...	ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Diffuse leukoencephalopathy, Autonomic bladder dysfunction, Autonomic er...	OMIM:169500

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - lipid deposition	Lmnb1^{tm1a(EUCOMM)Wtsi}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lmnb1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lmnb1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Lamin B1 loss promotes lung cancer development and metastasis by epigenetic derepression of RET.	The Journal of experimental medicine (April 2019)	Lmnb1^{tm1a(EUCOMM)Wtsi}	PMC6547854
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Lmnb1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Cell-type-specific role of lamin-B1 in thymus development and its inflammation-driven reduction in thymus aging.	Aging cell (April 2019)	Lmnb1^{tm1a(EUCOMM)Wtsi}	PMC6612680

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MGI Allele	Allele Type	Produced
Lmnb1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lmnb1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lmnb1^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Lmnb1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lmnb1 MGI:96795

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Lmnb1 mutations

Histopathology

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