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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

Download data as: TSV XLS

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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 (1008 diseases)

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

Disease	Matching phenotypes	Source
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,...	OMIM:619179
Autosomal Dominant Primary Microcephaly	Microcephaly	ORPHA:2514
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal cerebellar peduncle morphology, Atrophy/Degeneration affecting the brainstem, Aspiration...	ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Corpus callo...	OMIM:169500

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

Disease	Matching phenotypes	Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Pachygy...	OMIM:615411
Microlissencephaly	Lissencephaly, Cerebral cortical atrophy, Pneumonia, Subcortical heterotopia, Polymicrogyria, Per...	ORPHA:1083
Lissencephaly 1	Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abnormal cerebral whi...	OMIM:607432
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callos...	OMIM:608097
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Periventricular lamina...	OMIM:611603
Pontocerebellar Hypoplasia, Type 1C	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Respiratory ins...	OMIM:616081
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol...	OMIM:300717
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Cerebellar hypoplasia, Optic atrophy, Microcephaly, Periventricular nodular heterotopia	OMIM:618572
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Respiratory insufficiency, Sclerosis of skull base, Hip contracture, Knee flexion ...	OMIM:313420
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respir...	ORPHA:370968
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure, Simplified gyral pattern	OMIM:618328
Chudley-Mccullough Syndrome	Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo...	OMIM:604213
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Abnormality of neuronal migration, Microcephaly, Macrocephal...	OMIM:618709
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi...	OMIM:611890
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Intrauterine growth reta...	ORPHA:1980
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator...	OMIM:619466
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Global brain atrophy, Respiratory insufficiency, Death in infancy, Hyperintensity of cerebral whi...	OMIM:611722
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation	ORPHA:2216
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Abnormal cortical ...	OMIM:616867
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebella...	OMIM:618677
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Microcephaly, Cerebral calcification, Respiratory insufficiency	ORPHA:1314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Ce...	OMIM:225753
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Cerebral atrophy, Aspiration pneumonia, Intrauterin...	OMIM:619057
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Intrauterine growth retardation, Large fontanelles, Short neck, R...	ORPHA:1832
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Pulmonary sequestration, Lateral ventricle dilatation, Frontal bossing	OMIM:618330
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol...	ORPHA:300573
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Lissencephaly 5	Leukoencephalopathy, Optic atrophy, Cerebellar vermis hypoplasia, Occipital encephalocele, Hypopl...	OMIM:615191
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench...	OMIM:156530
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:459074
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephal...	OMIM:604317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Hypoplasia of the brainstem, Elbow flexion con...	OMIM:608840
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Lateral ventricle dilatation, Bic...	OMIM:616602
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgy...	ORPHA:352682
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Abnormal peripheral...	ORPHA:90117
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Cerebral atrophy, Polymicrogyria, Respiratory insufficiency, Intrauterine growth r...	OMIM:615330
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Respiratory insufficiency, Camptodactyly of finge...	OMIM:614399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:613954
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Microcephaly, Proxi...	ORPHA:370980
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Periven...	OMIM:616171
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Neonatal respiratory distress, Neuronal loss in the cerebral cortex, Agenesi...	ORPHA:168486
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory...	OMIM:619773
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Skeletal muscle atrophy, Lateral ventric...	OMIM:618291
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Progre...	ORPHA:2254
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Ullrich Congenital Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee flexi...	ORPHA:75840
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Recurrent respiratory infections, Plagiocephaly, Agenesis of corpus callosum	OMIM:618603
Band Heterotopia	Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Hyperekplexia 4	Umbilical hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Resp...	OMIM:618011
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d...	OMIM:619602
Combined Oxidative Phosphorylation Deficiency 4	Polymicrogyria, Intrauterine growth retardation, Death in infancy, Microcephaly, Respiratory failure	OMIM:610678
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Pterygium, Joint st...	ORPHA:2771
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr...	OMIM:610967
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due...	ORPHA:2590
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly, Hypoplasia of the pons	OMIM:607313
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficien...	OMIM:245400
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Intellectual Developmental Disorder, Autosomal Dominant 67	Recurrent respiratory infections, Posterior plagiocephaly	OMIM:619927
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, EMG:...	ORPHA:171433
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Spinal muscula...	ORPHA:254875
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Cerebral atrophy, Weakness of facial musculature	OMIM:618637
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly	OMIM:236795
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Unilambdoid synostosis, Agenesis of corpus callosum	OMIM:618577
Chromosome 3Q13.31 Deletion Syndrome	Dolichocephaly, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum	OMIM:615433
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S...	ORPHA:98905
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss...	OMIM:135100
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure, Thin corpus callosum, EMG...	OMIM:620326
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ...	ORPHA:970
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly, Hypoplasia of the brainstem	OMIM:614563
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Respiratory insufficiency, Neonatal death, Microcephaly, Respiratory failure	OMIM:610127
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, De...	ORPHA:254361
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct...	OMIM:604320
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Mic...	OMIM:616212
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt...	ORPHA:2512
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly	OMIM:618774
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ra...	OMIM:276950
Hemimegalencephaly	Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heteroto...	ORPHA:99802
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne...	OMIM:620249
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent...	OMIM:608647
Acalvaria	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Abnormal l...	ORPHA:945
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Immunodeficiency 54	Respiratory insufficiency, Intrauterine growth retardation, Microcephaly, Recurrent respiratory i...	OMIM:609981
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent pneumonia, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:617751
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Hypoplasia...	OMIM:618186
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput	OMIM:618672
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal deat...	OMIM:616342
Malan Overgrowth Syndrome	Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Scaphocephaly, Frontal ...	ORPHA:420179
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Agene...	ORPHA:89844
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal...	ORPHA:2759
Hao-Fountain Syndrome	Large fontanelles, Delayed cranial suture closure	OMIM:616863
Congenital Muscular Dystrophy, Fukuyama Type	Dolichocephaly, Brachycephaly, Plagiocephaly	ORPHA:272
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Wormian bones, Joint hypermobility	ORPHA:2787
Hypophosphatasia	Respiratory insufficiency, Emphysema, Large fontanelles, Abnormal rib morphology, Craniosynostosi...	ORPHA:436
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Microcephaly, Respiratory ins...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 11	Cerebral cortical atrophy, Death in childhood, Myopathy, Hypoplasia of the corpus callosum, Neona...	OMIM:614922
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy, Macrocephaly	OMIM:618240
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Plagiocephaly	OMIM:618731
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Diffuse white matter abnormalities, Calf muscle pseudohypertrophy, Occipital encep...	ORPHA:370959
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, In...	ORPHA:1194
Summitt Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:3210
6Q25 Microdeletion Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:251056
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality ...	ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Increased variability in muscle fiber diameter, Muscular dystrophy,...	OMIM:616538
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Atrophy/Degeneration affecting the brainstem, Agenesis of corpus callosum	OMIM:620200
Muenke Syndrome	Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull	OMIM:602849
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Intrauterine growth retardation, Wormian bones, Thin bony cor...	OMIM:619795
Craniofrontonasal Dysplasia	Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing	ORPHA:1520
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Hypoplasia of...	OMIM:614643
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Plagiocephaly	ORPHA:1143
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Thin corpus callosum, Respiratory failure, Death in infancy	OMIM:616277
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent pneumonia, Plagiocephaly, Hypoplasia of the brainstem	ORPHA:500159
Severe Congenital Nemaline Myopathy	Thin ribs, Large fontanelles, Multiple prenatal fractures, Flexion contracture, Arthrogryposis mu...	ORPHA:171430
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata...	OMIM:245650
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly, Respiratory fai...	OMIM:312170
Pentasomy X	Plagiocephaly	ORPHA:11
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent pneumonia, Plagiocephaly, Hypoplasia of the pons, Recurrent bronchitis, Frontal bossing	OMIM:619293
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:616801
Lessel-Kreienkamp Syndrome	Scaphocephaly, Plagiocephaly, Frontal bossing	OMIM:619149
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Intrauterine growth retardation...	OMIM:620327
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu...	OMIM:263000
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Intrauterine growth retard...	ORPHA:86822
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype...	ORPHA:70589
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Elbow flexion contracture, Flexion contracture, Multiple joint con...	ORPHA:70
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosis,...	ORPHA:449280
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Multi...	OMIM:259410
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly	OMIM:617481
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Delayed patellar ossification, Short neck, Abnormality of cranial s...	ORPHA:163649
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Intrauterine ...	ORPHA:255138
Osteogenesis Imperfecta, Type Iii	Thin ribs, Wide anterior fontanel, Recurrent fractures, Bowing of limbs due to multiple fractures...	OMIM:259420
Alg1-Cdg	Limitation of joint mobility, Respiratory failure, Scoliosis, Kyphosis	ORPHA:79327
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:619721
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Muscular dystrophy, Atelectasis, Respiratory insufficiency, Absent muscle fiber mer...	ORPHA:258
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification	OMIM:618265
Coffin-Siris Syndrome 6	Plagiocephaly, Frontal bossing	OMIM:617808
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Polymicrogyria, Respiratory insufficiency, Cerebral calcification, ...	OMIM:617397
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:616789
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of neurona...	ORPHA:2518
Leber Congenital Amaurosis	Abnormality of neuronal migration, Abnormal optic disc morphology, Aplasia/Hypoplasia of the cere...	ORPHA:65
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly	OMIM:618821
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Houge-Janssens Syndrome 3	Plagiocephaly, Frontal bossing, Hypoplasia of the brainstem	OMIM:618354
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Fle...	OMIM:310200
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Brachycephaly, Turricephaly	ORPHA:1532
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly	OMIM:618862
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation, Aplasia/Hypopla...	ORPHA:2772
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac...	OMIM:609220
Walker-Warburg Syndrome	Optic atrophy, Abnormal cortical gyration, Aplasia/Hypoplasia involving the skeletal musculature,...	ORPHA:899
Bresek Syndrome	Plagiocephaly, Neonatal death	ORPHA:85284
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Short neck, Camptodactyly, Respiratory failure, Prominent metopi...	OMIM:618804
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Lateral ventricle dilatation, Brachycephaly, Partial agenesis of the corpus callos...	OMIM:617296
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Respiratory insufficiency, Large fontanelles, Multiple rib fractures, W...	OMIM:166210
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:2063
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure	ORPHA:70587
Grant Syndrome	Joint dislocation, Large fontanelles, Abnormal cortical bone morphology, Decreased skull ossifica...	ORPHA:2097
Neuromyelitis Optica Spectrum Disorder	Myelitis, Respiratory failure	ORPHA:71211
Pelizaeus-Merzbacher Disease, Connatal Form	Abnormal morphology of musculature of pharynx, Cerebellar hypoplasia, Lower limb amyotrophy, Conf...	ORPHA:280210
Houge-Janssens Syndrome 2	Plagiocephaly, Agenesis of corpus callosum	OMIM:616362
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:618430
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Thin...	OMIM:617952
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly	OMIM:618089
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Pneumocystosis	Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ...	ORPHA:723
Melnick-Needles Syndrome	Anisospondyly, Craniofacial hyperostosis, Delayed cranial suture closure, Respiratory insufficien...	ORPHA:2484
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ...	OMIM:113000
Allergic Bronchopulmonary Aspergillosis	Emphysema, Cerebral cortical atrophy, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal migration, Gray...	OMIM:300049
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Polymicrogyria, Intracerebral periventricular calcifications, Resp...	OMIM:608836
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Periventricular heterotopia, Cerebella...	OMIM:618273
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Plagiocephaly, Flat occiput	OMIM:619383
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly	ORPHA:369891
Alkuraya-Kucinskas Syndrome	Kinked brainstem, Plagiocephaly, Pleural effusion, Hypoplasia of the brainstem	OMIM:617822
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Lateral ventricle dilatation, Hypoplasia of the pons, Bicoronal syno...	OMIM:618736
Multiple Mitochondrial Dysfunctions Syndrome 1	Leukoencephalopathy, Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal deat...	OMIM:605711
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Increased susceptibility to f...	OMIM:231070
Muenke Syndrome	Coronal craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:53271
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Agenesis of corpus callosum, Syringo...	OMIM:207950
Cole-Carpenter Syndrome 1	Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Reduced bone mineral density, Wor...	OMIM:112240
Leigh Syndrome, Nuclear	Optic atrophy, Respiratory failure, Respiratory insufficiency, Focal substantia nigra T2 hyperint...	OMIM:256000
Hypomelanosis Of Ito	Gray matter heterotopia, Microcephaly, Cerebral atrophy, Macrocephaly	OMIM:300337
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Intrauterine growth retardation, Pleural effusion, Short ribs, Multipl...	OMIM:616897
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital encephalocele, Gray matte...	OMIM:164180
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Cerebral atrophy, Death in childhood, Microcephaly, Primary microce...	OMIM:619847
Combined Oxidative Phosphorylation Deficiency 54	Lower limb muscle weakness, Secondary microcephaly, Periventricular nodular heterotopia, Intraute...	OMIM:619737
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Global brain atrophy, Cerebral atrophy, Abnormal periventricular white matter morphology, Death i...	OMIM:615838
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis	OMIM:619638
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Coronal craniosynostosis, Lambdoidal craniosynostosis, Osteopenia, Recu...	OMIM:616294
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly, Agenesis of corpus callosum	OMIM:619435
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Re...	ORPHA:244
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Leukoencephalopathy, Global brain atrophy, Myelopathy, Death in childhood, C...	OMIM:617186
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Plagiocephaly, Anterior plagiocephaly, Left unicoronal syno...	OMIM:614749
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Frontal bossing, Agenesis of corpus callosum	OMIM:619720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Plagiocephaly	OMIM:619833
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Atelectasis, Osteomyelitis, Joint hypermobility, Eosinophilia, Craniosynostosis, Recu...	ORPHA:2314
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Polymicrogyria, Elbow contra...	OMIM:617201
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Amyotro...	ORPHA:803
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Hypermobility of interphalangeal joints, Wormian bones, Osteoporosis, S...	OMIM:613849
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Distal amyotrophy, Basal ganglia calcification, Flexion contracture, Respiratory f...	OMIM:616505
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Microcephaly, Camptodactyly, Thin corpus callosum, Gray matter heterotopia	OMIM:619694
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Dysplastic sacrum, Large fontanelles, Death in childhood, Death ...	OMIM:613320
Thanatophoric Dysplasia Type 2	Respiratory insufficiency, Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia o...	ORPHA:93274
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Myopathy, Respiratory failure, Cerebral atrophy	ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal cerebral morphology, Focal T2 hyperintense basal ganglia lesion, Respiratory failure	ORPHA:70472
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Recurrent respiratory infections, Plagiocephaly	OMIM:616579
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cerebral cortical atrophy, Respiratory insufficiency, Congenital diaphragmatic hernia, Abnormalit...	ORPHA:1166
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Robinow-Sorauf Syndrome	Craniosynostosis, Plagiocephaly, Pansynostosis	OMIM:180750
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Anauxetic Dysplasia 3	Recurrent respiratory infections, Plagiocephaly	OMIM:618853
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:617622
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Cerebral cortical atrophy, Recurrent pneumonia, Skeletal muscle atrophy, Secondary...	ORPHA:496641
Radio-Renal Syndrome	Chylothorax, Abnormal form of the vertebral bodies, Pleural effusion, Short neck, Abnormal rib mo...	ORPHA:3015
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical gyration, Muscular dystr...	ORPHA:2671
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Respiratory failure, Wide anterior...	OMIM:616482
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Frontal bossing	ORPHA:371364
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy, Abnormality of somato...	ORPHA:98755
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ...	OMIM:253310
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Partial agenesis of the...	ORPHA:300570
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip...	ORPHA:26791
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Horizontal ribs, Short ribs, Pulmonary hypoplasia	OMIM:617895
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Umbilical hernia, Increased bone mineral density, Reduced bone mineral density, Ky...	OMIM:614856
Thanatophoric Dysplasia	Respiratory insufficiency, Intrauterine growth retardation, Macrocephaly, Gray matter heterotopia...	ORPHA:2655
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory failure, Pulmo...	ORPHA:36238
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Osteopenia, Recurrent fractures, Decreased skull ossification, Decrease...	OMIM:610915
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothorax	ORPHA:70588
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:619131
Avian Influenza	Pneumonia, Myelitis, Pleural effusion, Rhabdomyolysis, Pneumothorax, Respiratory failure, Miscarr...	ORPHA:454836
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:2163
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractures, Bowing...	OMIM:166220
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Neurocutaneous Melanocytosis	Death in infancy, Syringomyelia, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer...	ORPHA:2481
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Microcephaly, Respiratory failure, Cerebral atrophy	OMIM:250940
Raine Syndrome	Plagiocephaly, Brachyturricephaly, Death in infancy, Neonatal death, Brachycephaly, Pulmonary hyp...	OMIM:259775
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Agenesis of corpus callosum, Prominent occiput	OMIM:617360
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Elbow flexion contracture, Hip contracture, Hypoplasia of the corpus callosum, Mic...	OMIM:617301
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Recurrent fractures, Join...	ORPHA:2050
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Syringomye...	ORPHA:2357
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Agenesis of corpus callosum	ORPHA:363528
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis	OMIM:620321
Osteogenesis Imperfecta, Type Vii	Osteopenia, Absent pulmonary artery, Delayed cranial suture closure, Recurrent fractures, Death i...	OMIM:610682
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Radioulnar synostosis, Beaking of vertebral bodies, Anterior atlanto-oc...	ORPHA:536467
Acute Lung Injury	Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Respiratory f...	ORPHA:178320
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Dolichocephaly, Plagiocephaly, Frontal bossing, Lateral ventricle dilatation	ORPHA:457279
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Abnormality of the wrist, Large fontanelles, Hyperlordosis, Scoli...	ORPHA:2511
Vici Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the pons, Death in infancy, Agenesis of c...	ORPHA:1493
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficiency, Myopathy, Death in infancy,...	OMIM:615512
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Joint hypermobility, Wormian bones, Hyperlordosis, Scoliosis,...	OMIM:617821
Joubert Syndrome 1	Plagiocephaly, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar pe...	OMIM:213300
Mitochondrial Complex I Deficiency, Nuclear Type 10	Leukoencephalopathy, Optic atrophy, Respiratory failure	OMIM:618233
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad ribs, Wormian bones, Thin bony cortex, Increased bone mineral density, Vertebra...	ORPHA:85184
Microphthalmia, Syndromic 12	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Neonatal death	OMIM:615524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Atrophy/Degeneration affecting the brainstem	OMIM:617193
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R...	ORPHA:60032
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Decreased calvarial ossification, Multiple rib fractures, Wormian bone...	OMIM:616229
Noonan Syndrome 13	Plagiocephaly	OMIM:619087
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Macrocephaly, Gray matter...	OMIM:615219
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Optic atrophy, Macrocephaly	ORPHA:44
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Left ventricular hypertrophy, Respiratory...	ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicrogyria, Cerebral calcificati...	ORPHA:157
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Pulmonary fibrosis, Abnormal pulmonary interstitial mo...	OMIM:612387
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Absent septum pelluc...	ORPHA:35107
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Delayed cranial suture closure, Intrauterine growth retardation, Decreased skull ossif...	ORPHA:93324
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficiency, Death in child...	OMIM:607625
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly	ORPHA:261652
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Atelectasis, Death in infancy, Myopathy, Neonatal death	OMIM:300219
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly	OMIM:619188
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Neonatal death, Temporal lobe dysplasia, Macrocephaly, Gray matter...	OMIM:187600
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Abnormal cerebral white matter m...	OMIM:300957
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ...	OMIM:300887
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Plagiocephaly	ORPHA:251061
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Recurrent respiratory infections	ORPHA:320385
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankle flexion contracture, Osteopenia, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypopla...	ORPHA:88618
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Aspiration pneumonia, Elbow flexion contra...	ORPHA:2020
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Hypoplasia o...	OMIM:608027
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Osteolysis invol...	ORPHA:371428
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle...	ORPHA:206436
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Brachycephaly, Elongated supe...	OMIM:619512
Pagod Syndrome	Optic atrophy, Pulmonary artery hypoplasia, Encephalocele, Congenital diaphragmatic hernia, Death...	ORPHA:991
Craniometadiaphyseal Dysplasia	Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol...	OMIM:269300
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure	OMIM:607598
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wormian bones, Wide anterior fontanel	OMIM:601356
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Trisomy 20P	Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing	ORPHA:261318
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology	ORPHA:247262
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior...	ORPHA:95717
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Leukoencephalopathy, Optic atrophy, Death in childhood, Weakness of facial musculature, Increased...	OMIM:220110
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Large fontanelles,...	OMIM:219150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Intrauterine growth retardation, Large placenta, Joint hypermobility, Wrist fle...	ORPHA:254528
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Hypoplasia of the pons, Hypoplasia of the brainstem	OMIM:300749
Fibrochondrogenesis 1	Platyspondyly, Thin ribs, Joint contracture of the hand, Posterior rib cupping, Short ribs, Short...	OMIM:228520
Fg Syndrome Type 1	Craniosynostosis, Plagiocephaly, Prominent occiput	ORPHA:93932
Non-Distal Duplication 10Q	Brachycephaly, Frontal bossing	ORPHA:1695
3-Methylglutaconic Aciduria Type 7	Cerebral atrophy, Abnormal basal ganglia morphology, Pneumothorax, Primary microcephaly, Respirat...	ORPHA:445038
Snakebite Envenomation	Muscle fiber necrosis, Respiratory failure, Rhabdomyolysis	ORPHA:449285
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure	ORPHA:70578
Dihydropyrimidinase Deficiency	Plagiocephaly	OMIM:222748
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1895
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:457193
Pycnodysostosis	Coronal craniosynostosis, Spondylolysis, Persistent open anterior fontanelle, Delayed cranial sut...	ORPHA:763
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Lateral ventricle dilatation	OMIM:619972
Mitochondrial Complex I Deficiency, Nuclear Type 1	Leukoencephalopathy, Skeletal muscle atrophy, Respiratory insufficiency, Focal T2 hyperintense ba...	OMIM:252010
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Subcortical white matter calcifications, Cerebellar hypoplasia, Diffuse cerebral atrophy, Absent ...	ORPHA:3240
Frontonasal Dysplasia 2	Parietal foramina, Calvarial skull defect, Anterior plagiocephaly, Brachycephaly, Craniosynostosis	OMIM:613451
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral calcificat...	OMIM:620024
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf...	ORPHA:60025
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Osteoporosis	ORPHA:2788
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly	ORPHA:2528
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Respiratory insufficiency, Abnormal lung lobation, Congenital diaphragmatic hernia, Death in infa...	ORPHA:1120
Multiple Pterygium-Malignant Hyperthermia Syndrome	Dolichocephaly, Plagiocephaly	ORPHA:2215
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly	OMIM:619680
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Joint hypermo...	ORPHA:2789
Galloway-Mowat Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Abnormality of neuronal migration, Micr...	ORPHA:2065
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Parietal Foramina 1	Wormian bones, Encephalocele	OMIM:168500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Recurrent pneumonia, Agenesis of corpus callosum, Microcephaly, Ca...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Xq28 (MECP2) duplication	Brachycephaly, Recurrent respiratory infections, Death in childhood	DECIPHER:45
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Partial absenc...	OMIM:620371
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Abnormal periventricular white matter morp...	OMIM:615960
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Arthritis, Ab...	ORPHA:420741
Poliomyelitis	Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low...	ORPHA:2912
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly	OMIM:613776
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Respiratory failure, Right ventricular hypertrophy, Abnormal basal ...	ORPHA:444013
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the lungs, Turricephaly	ORPHA:2145
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Rh...	OMIM:610505
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly	OMIM:618644
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Massively thickened long bone cortices, Wormian bones, Short...	ORPHA:1798
Waardenburg Syndrome Type 3	Microcephaly, Atelectasis, Camptodactyly of finger	ORPHA:896
Menkes Disease	Intrauterine growth retardation, Death in childhood, Joint hypermobility, Wormian bones, Osteopor...	OMIM:309400
Leigh Syndrome	Diffuse spongiform leukoencephalopathy, Optic atrophy, Neuronal loss in basal ganglia, Skeletal m...	ORPHA:506
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Delayed cranial suture closure, Facial hyperostosis, Large ...	ORPHA:2780
Seckel Syndrome 9	Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Mi...	OMIM:616777
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Schisis Association	Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Anencephaly	ORPHA:63862
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly	ORPHA:500055
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Respiratory insufficiency, Camptodactyly of finger, Intrauterine growth retarda...	ORPHA:2311
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Joint hypermobility, Pulmonary artery stenosis, Craniosynostosis, Respi...	ORPHA:3342
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respirato...	OMIM:610978
Pycnodysostosis	Spondylolysis, Persistent open anterior fontanelle, Spondylolisthesis, Wormian bones, Increased b...	OMIM:265800
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Osteopenia, Intrauterine growth retardation, Large fontanelles, Joint...	OMIM:612940
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Intrauterine growth retardation, Reduc...	OMIM:613658
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Wormian bones, Shor...	OMIM:300232
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Diffuse white matter abnormalities, Cerebral atrophy, Microcephaly, Limb hypertoni...	OMIM:259720
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Midline brain calcifications, Intrauterine growth retardation, Hyp...	OMIM:247200
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Delayed cranial suture closure, Os odontoideum, Intrauterine growth retardation, Join...	OMIM:616603
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dolichocephaly, Plagiocephaly, Frontal bossing, Death in childhood	OMIM:619005
ERI1-related disease	Platyspondyly, Osteopenia, Intrauterine growth retardation, Increased vertebral height, Limited e...	OMIM:608739
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Respiratory failure, Microcephaly	ORPHA:2707
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormality of the costochondral junction, Large placenta, Short neck, Anterior rib cupping, Coat...	ORPHA:96334
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly	OMIM:239300
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Cerebral atrophy, Death in childhood, Patent urachus, Respiratory failure	OMIM:618252
Acrocallosal Syndrome	Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of...	ORPHA:36
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly	OMIM:615471
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Large font...	OMIM:603116
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory insufficiency, Secondary microcephaly, Cerebellar hypoplasia, Respirat...	OMIM:618329
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing	ORPHA:85199
Nijmegen Breakage Syndrome	Recurrent pneumonia, Skeletal muscle atrophy, Abnormality of neuronal migration, Microcephaly, Re...	ORPHA:647
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic dis...	ORPHA:468631
Cleidocranial Dysplasia	Genu valgum, Large fontanelles, Decreased skull ossification, Wormian bones, Abnormal rib morphol...	ORPHA:1452
Ulna Hypoplasia-Intellectual Disability Syndrome	Joint stiffness, Large fontanelles, Elbow dislocation, Delayed cranial suture closure	ORPHA:2249
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:610759
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Metopic synostosis, Craniosynostosis	OMIM:604757
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Plagiocephaly, Pleural effusion	ORPHA:453499
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Elbow flexion co...	OMIM:300868
Fanconi Renotubular Syndrome 5	Emphysema, Hypophosphatemic rickets, Genu valgum, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Saethre-Chotzen Syndrome	Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:794
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Agenesis of corpus callosum, Brachycephaly, Abnormal shape of the occiput, Fr...	OMIM:218350
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Polymicrogyria, Macrocephaly, Gray matter heterotopia, Macroglossia...	OMIM:619775
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency	OMIM:613845
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency	OMIM:609015
Joubert Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Encephal...	ORPHA:475
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia, Camptodactyly of...	OMIM:175700
Linear Nevus Sebaceus Syndrome	Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing	ORPHA:2612
Atelosteogenesis Type Ii	Plagiocephaly, Pulmonary hypoplasia	ORPHA:56304
Nestor-Guillermo Progeria Syndrome	Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W...	OMIM:614008
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia, Hypoplasia of the corpus callosum, Mic...	OMIM:614105
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Frontal bossing, Turricephaly	OMIM:613603
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Respiratory tract infection, Hyperlordosis, Respiratory i...	ORPHA:365
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Hypoplasia of the brainstem	OMIM:254940
Chromosome 16Q22 Deletion Syndrome	Wormian bones, Short neck, Wide anterior fontanel, Prominent metopic ridge	OMIM:614541
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Agenesis of corpus callosum	OMIM:613457
Mercury Poisoning	Interstitial pneumonitis, Abnormal cerebral white matter morphology, Respiratory failure	ORPHA:330021
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Respiratory failure, Right ventricular hypertrophy, Anomalous pu...	ORPHA:555874
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina	ORPHA:52022
Tenorio Syndrome	Osteopenia, Recurrent pneumonia, Delayed cranial suture closure, Joint hypermobility, Scoliosis	OMIM:616260
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Aspiration pneumonia	OMIM:301072
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly	OMIM:619227
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Camptodactyly of finger	ORPHA:2863
3C Syndrome	Optic atrophy, Death in infancy, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer...	ORPHA:7
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Congenital hip dislocation, Spondylolysis, Stillbirth, Umbilical hernia, Elbow con...	OMIM:304120
Galloway-Mowat Syndrome 1	Optic atrophy, Joint contracture of the hand, Cerebral atrophy, Hypoplasia of the brainstem, Seco...	OMIM:251300
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Skeletal myopathy, Left ve...	ORPHA:746
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Plagiocephaly, Frontal bossing, Abnormal lung lobation	ORPHA:2538
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Osteopenia, Increased vertebral height, Limited elbow extension, Wormian bones, Se...	OMIM:620663
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick...	ORPHA:98889
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Increased susceptibility to fractures, Joint hypermobi...	OMIM:166200
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure, Limited wrist movement, Limited elbow movement	OMIM:617809
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Hypoplasia of the corpus callosum	OMIM:618974
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Plagiocephaly, Frontal bossing	OMIM:305450
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Platyspondyly, Osteopenia, Increased vertebral height, Wormian bon...	OMIM:620662
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly	OMIM:615656
Alg11-Cdg	Cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Limb hypertonia, Abnormal cerebral...	ORPHA:280071
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation	OMIM:614450
Bohring-Opitz Syndrome	Neonatal respiratory distress, Hypoplasia of the brainstem, Intrauterine growth retardation, Hypo...	OMIM:605039
Bickerstaff Brainstem Encephalitis	Pneumonia, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono...	ORPHA:79138
Alg12-Cdg	Recurrent pneumonia, Posterior plagiocephaly, Recurrent respiratory infections, Recurrent pharyng...	ORPHA:79324
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Nonarteriosclerotic cerebral calcification	OMIM:210050
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Periventri...	OMIM:618733
Adnp Syndrome	Trigonocephaly, Recurrent upper respiratory tract infections, Plagiocephaly, Brachycephaly	ORPHA:404448
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ...	ORPHA:357058
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Hypoplasia of the corpus callosum, Pu...	OMIM:618278
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormali...	ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II li...	OMIM:615287
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Neonatal respiratory distress, Polymicrogyria, Intracerebral perive...	ORPHA:228308
Fragile X Syndrome	Periventricular heterotopia, Macrocephaly	OMIM:300624
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Abnormality...	ORPHA:333
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly	OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly	OMIM:617798
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly	ORPHA:495818
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly	OMIM:618268
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rachitic rosary, Rickets, Osteomalacia, Enlargement of the wrist...	ORPHA:289157
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Respiratory tract infection, Agenesis of corpus callosum	OMIM:218000
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Fibrochondrogenesis	Plagiocephaly	ORPHA:2021
Grant Syndrome	Wormian bones	OMIM:138930
Coffin-Lowry Syndrome	Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia of the corp...	ORPHA:192
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Macrocephaly	ORPHA:1860
Antley-Bixler Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ankylosis, Abnorm...	ORPHA:83
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Plagiocephaly, Pulmonary artery stenosis, Brachycephaly, Fr...	OMIM:280000
Lateral Meningocele Syndrome	Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormi...	OMIM:130720
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:457284
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Neonatal respiratory distress, Gray matter heterotopia, Hypoplasia of the corpu...	OMIM:618797
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Neonatal death, Resp...	OMIM:617248
Pierpont Syndrome	Brachycephaly	ORPHA:487825
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Plagiocephaly, Dolichocephaly, Craniosynostosis, Frontal bossing, Cloverleaf...	OMIM:613610
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Tracheomalacia, Atelectasi...	OMIM:613177
Meier-Gorlin Syndrome 1	Thin ribs, Genu recurvatum, Joint contracture of the hand, Elbow dislocation, Emphysema, Small an...	OMIM:224690
Au-Kline Syndrome	Craniosynostosis, Plagiocephaly, Sagittal craniosynostosis, Dolichocephaly	OMIM:616580
9Q21.13 Microdeletion Syndrome	Syringomyelia, Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Listeriosis	Pneumonia, Stiff neck, Osteomyelitis, Abnormality of the anterior fontanelle, Septic arthritis, R...	ORPHA:533
Even-Plus Syndrome	Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum	OMIM:616854
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Wormian bones, Osteolyt...	OMIM:259100
Myhre Syndrome	Platyspondyly, Limitation of joint mobility, Respiratory insufficiency, Broad ribs, Intrauterine ...	OMIM:139210
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Periventricular heterotopia, Absent septum pellucidum, Scapular wi...	OMIM:618870
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypoplastic olfactory lobes, Cerebral cortical atrophy, Neonatal respiratory distress, Macrogloss...	OMIM:214100
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly, Plagiocephaly	OMIM:620083
Clark-Baraitser Syndrome	Dolichocephaly, Brachycephaly	OMIM:617752
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis	ORPHA:2902
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Short neck, Protrusio acetabuli, Spinal rigidity...	ORPHA:800
Pierpont Syndrome	Brachycephaly	OMIM:602342
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Tall lumbar vertebral bodies, Umbilical hernia, Dislocated radia...	OMIM:102500
Cleidocranial Dysplasia 1	Spondylolysis, Hip dislocation, Neonatal respiratory distress, Persistent open anterior fontanell...	OMIM:119600
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Congenital diaphragmatic herni...	OMIM:219100
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Camptodactyly of finger, Intrauterine growth retardation, Patellar aplasia, Jo...	ORPHA:2554
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Aymé-Gripp Syndrome	Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:1272
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Abnormal cerebral cortex morphology, Global brain atrophy, Lateral ventricle dilat...	ORPHA:500150
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Megalopapilla, Hypoplasia of...	OMIM:615636
Osteogenesis Imperfecta	Thin ribs, Enlarged vertebral pedicles, Genu valgum, Large fontanelles, Decreased skull ossificat...	ORPHA:666
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Interstitial emphysema, Hypoplasia of the pons, Polymicrogyria, Knee flexion contr...	OMIM:619708
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia	ORPHA:2140
Ogden Syndrome	Pulmonary artery stenosis, Scoliosis, Delayed cranial suture closure	ORPHA:276432
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Gapo Syndrome	Plagiocephaly, Frontal bossing	OMIM:230740
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly	ORPHA:2673
Holoprosencephaly	Optic atrophy, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Respiratory insuffic...	ORPHA:2162
Ulbright-Hodes Syndrome	Thin ribs, Abnormal rib morphology, Humeroradial synostosis, Short ribs, Short sternum, Ovoid tho...	ORPHA:3404
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Craniosynostosis, Brachycephaly, Frontal bossing	ORPHA:314575
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly	OMIM:614416
Gomez-Lopez-Hernandez Syndrome	Wormian bones, Craniosynostosis, Wide anterior fontanel	OMIM:601853
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Calvarial skull defect, Agenesis of corpus callosum, Brachycephaly, Fro...	ORPHA:228390
Hennekam-Beemer Syndrome	Pneumonia, Respiratory insufficiency, Camptodactyly of finger, Delayed cranial suture closure, Sc...	ORPHA:2135
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior...	ORPHA:95716
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Lowry-Maclean Syndrome	Osteopenia, Small anterior fontanelle, Intrauterine growth retardation, Osteoporosis, Widely pate...	ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly	OMIM:615834
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Dolichocephaly, Plagiocephaly	ORPHA:1101
Aicardi Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Recurrent pneumonia, Lateral ventricle dilatation, O...	OMIM:304050
Arboleda-Tham Syndrome	Plagiocephaly, Recurrent respiratory infections, Craniosynostosis, Recurrent aspiration pneumonia...	OMIM:616268
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Cerebral calcification, Periventricular heterotopia, Agenesis of corpus callosum, ...	OMIM:618476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly	OMIM:618548
Halperin-Birk Syndrome	Optic atrophy, Umbilical hernia, Intrauterine growth retardation, Congenital diaphragmatic hernia...	OMIM:618651
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Chromosome 3Pter-P25 Deletion Syndrome	Trigonocephaly, Brachycephaly, Dolichocephaly, Flat occiput	OMIM:613792
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Umbilical hernia, Undulate ribs, Short ribs, Wide cranial s...	OMIM:618188
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Intrauterine growth retardation, Neonatal death, Macrocep...	OMIM:269860
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Aplasia/Hypoplasia of...	ORPHA:1454
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum, Turricephaly, Brachycephaly, Craniosynostosis, Frontal bossing	OMIM:613174
Bloom Syndrome	Pneumonia, Bronchitis, Intrauterine growth retardation, Respiratory tract infection, Decreased he...	ORPHA:125
Crouzon Syndrome	Brachycephaly, Frontal bossing, Multiple suture craniosynostosis, Turricephaly	ORPHA:207
Meier-Gorlin Syndrome 4	Emphysema, Microcephaly, Intrauterine growth retardation	OMIM:613804
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Death in childhood, Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:210710
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Craniosynostosis, Brachycephaly, Turricephaly	ORPHA:171839
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Cervical ribs, Wormian bones, Flexion contracture of f...	OMIM:601812
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia ...	ORPHA:2847
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Microcephaly, Camptodactyly of finger, Agenesis of corpus call...	ORPHA:261236
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Death in early adulthood, Wormian bones, Acroosteolysis of distal...	OMIM:608612
Microphthalmia, Syndromic 9	Pulmonary hypoplasia, Agenesis of pulmonary vessels, Respiratory insufficiency, Intrauterine grow...	OMIM:601186
Van Maldergem Syndrome 1	Osteopenia, Tracheomalacia, Sacral dimple, Joint hypermobility, Wide cranial sutures, Radial head...	OMIM:601390
Turnpenny-Fry Syndrome	Brachycephaly, Recurrent respiratory infections, Plagiocephaly, Frontal bossing	OMIM:618371
De Barsy Syndrome	Congenital hip dislocation, Osteopenia, Umbilical hernia, Intrauterine growth retardation, Kyphos...	ORPHA:2962
Immunodeficiency 49	Pulmonary artery stenosis, Eosinophilia, Wormian bones, Umbilical hernia	OMIM:617237
Radio-Tartaglia Syndrome	Gray matter heterotopia, Microcephaly, Agenesis of corpus callosum	OMIM:619312
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Pulmonary hypoplasia, Abnormal lung lobation	OMIM:263210
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t...	ORPHA:75857
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Frontal bossing, Turricephaly	ORPHA:93262
Duane Retraction Syndrome	Plagiocephaly	ORPHA:233
8Q12 Microduplication Syndrome	Brachycephaly	ORPHA:228399
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Hypoplastic 5th lumbar vertebrae, Umbilical her...	ORPHA:955
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Aicardi Syndrome	Partial agenesis of the corpus callosum, Plagiocephaly	ORPHA:50
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Frontal bossing	OMIM:617364
Cornelia De Lange Syndrome 2	Brachycephaly	OMIM:300590
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Abnormal lung lobation, Intrauterine growth retardation, Absent septu...	OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Dolichocephaly, Partial agenesis of the corpus callosum, Plagiocephaly, Frontal bossing	OMIM:619480
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons	ORPHA:280195
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing	OMIM:264180
Marshall-Smith Syndrome	Atlantoaxial dislocation, Recurrent upper respiratory tract infections, Hypoplasia of the odontoi...	OMIM:602535
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Death in infancy, Brachycephaly, Craniosynostosis, Recurrent respiratory infections	ORPHA:1790
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Joint subluxation, Respiratory insuffi...	ORPHA:90349
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Frontal bossing	OMIM:600325
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Plagiocephaly, Agenesis of corpus callosum, Dolichocephaly, Frontal bossing	OMIM:619841
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly	OMIM:620688
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Lateral ventricle dilatation, Posterior plagiocephaly	OMIM:615873
Degcags Syndrome	Pneumonia, Craniosynostosis, Plagiocephaly, Agenesis of corpus callosum	OMIM:619488
Laurence-Moon Syndrome	Brachycephaly	ORPHA:2377
Malignant Atrophic Papulosis	Ischemic stroke, Pleural effusion, Respiratory failure	ORPHA:679
Autosomal Dominant Cutis Laxa	Genu recurvatum, Osteopenia, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip dislocation...	ORPHA:90348
Peripartum Cardiomyopathy	Left ventricular hypertrophy, Respiratory failure	ORPHA:563
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology, Periventricular leukomalacia	ORPHA:163681
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Rickets, Abnormal form of the vertebral bodies, Osteomalacia, Intrauterine growth ret...	ORPHA:2636
Hallermann-Streiff Syndrome	Thin ribs, Recurrent pneumonia, Decreased number of sternal ossification centers, Tracheomalacia,...	OMIM:234100
Frank-Ter Haar Syndrome	Osteopenia, Delayed cranial suture closure, Cortical irregularity, Anterior concavity of thoracic...	OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Costello Syndrome	Tracheomalacia, Respiratory insufficiency, Limited elbow movement, Short neck, Pneumothorax, Achi...	OMIM:218040
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Agenesis of corpus callosum	OMIM:618142
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Aspiration pneumonia	ORPHA:444077
Nocardiosis	Pneumonia, Emphysema, Osteomyelitis, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure	ORPHA:31204
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Lateral ventricle dilatation	ORPHA:85290
Melnick-Needles Syndrome	Delayed cranial suture closure, Genu valgum, Limited elbow extension, Anterior concavity of thora...	OMIM:309350
Cornelia De Lange Syndrome 5	Brachycephaly	OMIM:300882
Silver-Russell Syndrome 1	Intrauterine growth retardation, Delayed cranial suture closure	OMIM:180860
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Dolichocephaly, Plagiocephaly	OMIM:619475
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Anterior plagiocephaly	OMIM:619718
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Trigonocephaly, Scaphocephaly, Agenesis of corpus callosum, Brachycephaly, Sagittal craniosynostosis	ORPHA:459061
Holoprosencephaly 14	Macrocephaly, Periventricular heterotopia, Absent septum pellucidum, Microcephaly, Partial absenc...	OMIM:619895
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Brachycephaly, Plagiocephaly	ORPHA:2785
Hypocomplementemic Urticarial Vasculitis	Emphysema, Joint dislocation, Pleural effusion, Arthritis	ORPHA:36412
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Elbow flexion contracture, Broad ribs, Intrauterine growth retard...	OMIM:151050
Apert Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed epiphyseal ossification, Synostosi...	OMIM:101200
Man1B1-Cdg	Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Joint stiffness, Large fontanelles, Short neck, Osteochondrosis, ...	ORPHA:2995
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,...	OMIM:619179
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Posterior plagiocephaly, Scaphocephaly, Recurrent bronchitis, Brachycephaly,...	OMIM:620330
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly	ORPHA:1387
Van Maldergem Syndrome 2	Osteopenia, Tracheomalacia, Sacral dimple, Joint hypermobility, Wide cranial sutures, Hip subluxa...	OMIM:615546
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynein arms	OMIM:244400
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Marbach-Rustad Progeroid Syndrome	Wormian bones, Intrauterine growth retardation, Femur fracture, Reduced bone mineral density	OMIM:619322
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Coffin-Siris Syndrome 1	Plagiocephaly, Partial agenesis of the corpus callosum, Brachycephaly, Recurrent respiratory infe...	OMIM:135900
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cerebral cortical atrophy, Distal amyotrophy, Skeletal muscle a...	ORPHA:273
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Thickened calvaria, Dysplastic corpus callosum, Plagiocephaly, Frontal bossing	ORPHA:466791
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing	OMIM:615539
Slc35A2-Cdg	Abnormal midbrain morphology, Craniosynostosis, Lateral ventricle dilatation, Atrophy/Degeneratio...	ORPHA:356961
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cerebral cortical atrophy, Ankle flexion contracture, Intrauterine growth retardation, Hypoplasia...	ORPHA:464311
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Macrocephaly, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hip dislocation, Patellar dislocation, Atelectasis, Umbilical hernia, Osteomalacia...	ORPHA:534
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi...	OMIM:611812
Mandibuloacral Dysplasia With Type A Lipodystrophy	Limitation of joint mobility, Large fontanelles, Wormian bones, Acroosteolysis of distal phalange...	ORPHA:90153
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Delayed cranial suture closure, Facial hypero...	ORPHA:2658
Abetalipoproteinemia	Osteopenia, Respiratory failure, Kyphoscoliosis	ORPHA:14
Meier-Gorlin Syndrome 6	Umbilical hernia, Emphysema, Microcephaly, Recurrent respiratory infections, Simplified gyral pat...	OMIM:616835
Recombinant Chromosome 8 Syndrome	Brachycephaly	OMIM:179613
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Osteopenia, Pulmonary fibrosis	OMIM:620365
2Q32Q33 Microdeletion Syndrome	Brachycephaly	ORPHA:251019
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Flat acetabular roof, Fused cervical vertebrae	OMIM:617159
Occipital Horn Syndrome	Platyspondyly, Synostosis of joints, Hip dislocation, Osteopenia, Rickets, Delayed cranial suture...	ORPHA:198
German Syndrome	Dolichocephaly, Brachycephaly	ORPHA:2077
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Hypoplasia of the corpus callosum, Colpocephaly, Biparietal narrowin...	ORPHA:261250
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Sagittal craniosynostosis, Hypoplasia of the pons	OMIM:620455
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir...	OMIM:620233
Loeys-Dietz Syndrome 4	Emphysema, Spondylolisthesis, Joint hypermobility, Pneumothorax, Scoliosis, Protrusio acetabuli	OMIM:614816
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Dubowitz Syndrome	Delayed cranial suture closure, Respiratory insufficiency, Intrauterine growth retardation, Joint...	ORPHA:235
Koolen-De Vries Syndrome	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Hypotrophy of t...	OMIM:610443
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Agenesis of corpus callosum	OMIM:109120
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Umbilical hernia, Respiratory insufficiency, Intrauterine growth re...	OMIM:612289
Silver-Russell Syndrome	Intrauterine growth retardation, Scoliosis, Delayed cranial suture closure	ORPHA:813
White-Sutton Syndrome	Hypoplastic cervical vertebrae, Intrauterine growth retardation, Joint hypermobility, Wormian bon...	OMIM:616364
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic...	ORPHA:63260
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogyria, Occipital meningocele,...	OMIM:616546
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly	OMIM:300958
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent upper respiratory tract infections, Plagiocephaly, Skull asymmetry...	OMIM:150230
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Delayed cranial suture closure, Elbow flexion contracture, Joint stiffness, Wormian b...	OMIM:248370
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne...	ORPHA:95430
Chopra-Amiel-Gordon Syndrome	Brachycephaly	OMIM:619504
Matthew-Wood Syndrome	Abnormal lung morphology, Intrauterine growth retardation, Congenital diaphragmatic hernia, Pulmo...	ORPHA:2470
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Absent septum pellucidum, Agenesis of corpus callosum, Microceph...	ORPHA:2556
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Brachycephaly, Bicoronal synostosis	ORPHA:93258
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly	ORPHA:1327
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cerebellar vermis hypoplasia, Umbilical hernia, Secondary microcephaly, Cavum septum pellucidum, ...	OMIM:620654
Doors Syndrome	Aspiration pneumonia, Prominent occiput, Anterior plagiocephaly, Brachycephaly, Sagittal craniosy...	ORPHA:79500
Aicardi-Goutières Syndrome	Plagiocephaly	ORPHA:51
Iniencephaly	Lissencephaly, Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalo...	ORPHA:63259
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Back pain, Pulmonary edema, Respiratory failure	ORPHA:340
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly	ORPHA:1449
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Delayed cranial suture closure	ORPHA:1129
Vici Syndrome	Cerebellar vermis hypoplasia, Myopathy, Agenesis of corpus callosum, Microcephaly, Schizencephaly...	OMIM:242840
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing, Stillbirth	OMIM:200610
Microcephalic osteodysplastic primordial dwarfism, type III	Delayed cranial suture closure, Dislocation of the femoral head, Intrauterine growth retardation,...	OMIM:210730
Niemann-Pick Disease Type C	Cerebral atrophy, Respiratory insufficiency, Aspiration pneumonia, Hypoplasia of the corpus callo...	ORPHA:646
Robinow Syndrome, Autosomal Recessive 1	Wide anterior fontanel, Hypoplastic sacrum, Thoracic hemivertebrae, Umbilical hernia, Delayed cra...	OMIM:268310
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Medulloblastoma	Back pain, Neoplasm of the lung, Delayed cranial suture closure	ORPHA:616
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Recurrent respiratory infections	OMIM:300260
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Chromosome 2P16.1-P15 Deletion Syndrome	Brachycephaly, Recurrent upper respiratory tract infections, Hypoplasia of the pons	OMIM:612513
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic herni...	OMIM:614437
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of olfactory ...	ORPHA:2754
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Fetal Trimethadione Syndrome	Brachycephaly	ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Frontal bossing, Agenesis of corpus callosum	OMIM:612582
Smith-Magenis Syndrome	Brachycephaly	OMIM:182290
Mandibuloacral Dysplasia	Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand...	ORPHA:2457
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia, Umbilical hernia	OMIM:620475
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Broad ribs, Sclerosis of skull base, Hypoplasia of first ribs, M...	OMIM:269150
Autosomal Dominant Primary Microcephaly	Microcephaly	ORPHA:2514
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly	ORPHA:3306
2Q23.1 Microdeletion Syndrome	Brachycephaly	ORPHA:228402
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Microceph...	OMIM:618918
Hunter-Macdonald Syndrome	Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia, Premature osteoa...	OMIM:611962
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Lateral ventricle dilatation	OMIM:619995
Kury-Isidor Syndrome	Brachycephaly, Frontal bossing	OMIM:619762
Lujan-Fryns Syndrome	Brachycephaly	ORPHA:776
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Frontal bossing	OMIM:608776
Chromosome 2Q37 Deletion Syndrome	Brachycephaly	OMIM:600430
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Flat occiput	OMIM:617452
Lymphangioleiomyomatosis	Optic atrophy, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax,...	ORPHA:538
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Agenesis of corpus callosum	OMIM:620073
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Calcification of falx cerebri, Tubulonodular pericallosal li...	OMIM:603671
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Brachycephaly, Recurrent respiratory infections, Bron...	ORPHA:1572
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Cranial asymmetry	OMIM:614886
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput	OMIM:220210
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Liver Disease, Severe Congenital	Pulmonary edema, Pneumonia, Plagiocephaly	OMIM:619991
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly	OMIM:618828
Faundes-Banka Syndrome	Plagiocephaly, Frontal bossing	OMIM:619376
Marfan Syndrome	Osteopenia, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Reduced bone minera...	ORPHA:558
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Lipomyelomeningocele, Occipital menin...	OMIM:601707
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing	ORPHA:1488
Netherton Syndrome	Emphysema, Recurrent respiratory infections	ORPHA:634
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput	ORPHA:505237
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Neonatal death	OMIM:619859
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Osteoporosis, Pneumothorax, Respiratory failure	ORPHA:79404
Larsen-Like Syndrome	Brachycephaly, Frontal bossing	OMIM:608545
Chromosome 13Q33-Q34 Deletion Syndrome	Trigonocephaly, Brachycephaly, Agenesis of corpus callosum, Pulmonary hypoplasia	OMIM:619148
Williams-Beuren Region Duplication Syndrome	Brachycephaly	OMIM:609757
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Pde4D Haploinsufficiency Syndrome	Thickened calvaria, Brachycephaly, Frontal bossing	ORPHA:439822
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Schinzel-Giedion Syndrome	Recurrent pneumonia, Umbilical hernia, Broad ribs, Sclerosis of skull base, Kyphoscoliosis, Stiff...	ORPHA:798
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Respiratory insufficiency, Intrauterine growth retardation, 11 pa...	OMIM:620005
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Arthrogryposis multiplex congenita, Delayed cranial suture closure, Umbilical ...	OMIM:601776
Den Hoed-De Boer-Voisin Syndrome	Death in adolescence, Recurrent lower respiratory tract infections, Brachycephaly, Lateral ventri...	OMIM:619229
48,Xxxy Syndrome	Brachycephaly, Recurrent respiratory infections, Azoospermia	ORPHA:96263
Monosomy 18P	Brachycephaly	ORPHA:1598
Alg9-Cdg	Pulmonary hypoplasia, Abnormal lung lobation, Delayed cranial suture closure, Short neck, Abnorma...	ORPHA:79328
Orofaciodigital Syndrome I	Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr...	OMIM:311200
Lig4 Syndrome	Brachycephaly, Recurrent respiratory infections	OMIM:606593
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Rhabdomyosarcoma, Agenesis of corpus callosum	OMIM:276300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Delayed cranial suture closure, Umbilical hernia, Intraut...	OMIM:278250
Mesomelic Dysplasia, Nievergelt Type	Dolichocephaly, Brachycephaly	ORPHA:2633
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
49,Xxxxy Syndrome	Brachycephaly, Recurrent respiratory infections, Azoospermia	ORPHA:96264
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ...	ORPHA:352665
Smith-Magenis Syndrome	Brachycephaly, Frontal bossing	ORPHA:819
Contractural Arachnodactyly, Congenital	Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly	OMIM:121050
Tuberous Sclerosis Complex	Pulmonary lymphangiomyomatosis, Respiratory tract infection, Cortical dysplasia, Cortical tubers,...	ORPHA:805
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Distal Deletion 10Q	Craniosynostosis, Brachycephaly, Frontal bossing, Lateral ventricle dilatation	ORPHA:96148
Marfan Syndrome	Genu recurvatum, Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Limited elbow ...	OMIM:154700
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly	OMIM:268850
Fraser Syndrome 2	Short neck, Respiratory failure	OMIM:617666
Kleefstra Syndrome	Pulmonary artery stenosis, Recurrent respiratory infections, Brachycephaly, Agenesis of corpus ca...	ORPHA:261494
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly	OMIM:301041
19P13.12 Microdeletion Syndrome	Craniosynostosis, Brachycephaly	ORPHA:254346
Orofaciodigital Syndrome Ii	Wormian bones, Scoliosis	OMIM:252100
Wrinkly Skin Syndrome	Congenital hip dislocation, Osteopenia, Umbilical hernia, Intrauterine growth retardation, Kyphos...	ORPHA:2834
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis	OMIM:201000
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Brachyturricephaly, Agenesis of corpus callosum	ORPHA:314621
22Q11.2 Deletion Syndrome	Atelectasis, Umbilical hernia, Abnormal lung lobation, Multiple suture craniosynostosis, Intraute...	ORPHA:567
Kleefstra Syndrome 1	Brachycephaly, Recurrent respiratory infections	OMIM:610253
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Delayed cranial suture closure, Joint stiffness, Genu valgum, Death in chi...	OMIM:619127
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Frontal bossing	ORPHA:1292
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Pulmonary edema, Paucity of a...	ORPHA:79139
Al Kaissi Syndrome	Brachycephaly	OMIM:617694
Denys-Drash Syndrome	Neonatal respiratory distress, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hern...	OMIM:194080
Alagille Syndrome	Brachycephaly, Peripheral pulmonary artery stenosis, Frontal bossing	ORPHA:52
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Agenesis of corpus callosum, Flat occiput	ORPHA:96147
Lujo Hemorrhagic Fever	Cerebral edema, Atelectasis	ORPHA:319213
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:731
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Polymicrogyria, Periv...	OMIM:615948
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Menkes Disease	Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Intrauterine growth retardation, Joint hyperm...	ORPHA:565
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly	ORPHA:404440
Stevenson-Carey Syndrome	Brachycephaly	OMIM:611961
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Epiphyseal stipplin...	OMIM:245150
Ogden Syndrome	Congenital hip dislocation, Peripheral pulmonary artery stenosis, Large posterior fontanelle, Umb...	OMIM:300855
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly	ORPHA:364028
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Emphysema, Intrauterine growth retardation, Genu valgum, Cubitus valg...	ORPHA:289
Martsolf Syndrome 1	Brachycephaly, Recurrent respiratory infections	OMIM:212720
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Large posterior...	ORPHA:90674
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Frontal bossing	OMIM:207410
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Brachycephaly, Plagiocephaly	OMIM:607932
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Large fontanelles	OMIM:257850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Brachycephaly	OMIM:615398
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Diamond-Blackfan Anemia 1	Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Delayed cranial suture closure, Intrau...	OMIM:105650
Acrofrontofacionasal Dysostosis 2	Brachycephaly	OMIM:239710
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly	ORPHA:3042
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Bone cyst, Arthritis, Abnormal pulmonary interstitial morphology, Pu...	OMIM:181000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Decreased calvarial ossification, Brachycephaly, Frontal bossing, Pulmonary hypop...	OMIM:617925
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Trisomy 10P	Abnormal hip joint morphology, Intrauterine growth retardation, Wide cranial sutures, Hemivertebr...	ORPHA:171929
Holoprosencephaly 7	Hypoplasia of the brainstem, Agenesis of corpus callosum, Parietal bossing, Cranial asymmetry, Pa...	OMIM:610828
Smith-Lemli-Opitz Syndrome	Global brain atrophy, Abnormal lung lobation, Intrauterine growth retardation, Periventricular he...	OMIM:270400
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Intrauterine growth retardation, Decreased skull ossification, Ca...	ORPHA:93325
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly	ORPHA:562528
Lig4 Syndrome	Brachycephaly, Biparietal narrowing	ORPHA:99812
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Acrofrontofacionasal Dysostosis	Brachycephaly	ORPHA:1784
Momo Syndrome	Brachycephaly, Frontal bossing	OMIM:157980
Acromelic Frontonasal Dysplasia	Brachycephaly, Agenesis of corpus callosum	ORPHA:1827
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Hypermobility of inte...	OMIM:130050
Warburg Micro Syndrome 4	Brachycephaly	OMIM:615663
Frontofacionasal Dysplasia	Brachycephaly	ORPHA:1791
Angelman Syndrome	Brachycephaly, Flat occiput	OMIM:105830
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Recurrent respiratory infections	ORPHA:261349
D-Bifunctional Protein Deficiency	Osteopenia, Large fontanelles, Delayed cranial suture closure	OMIM:261515
Acrodysostosis	Brachycephaly, Frontal bossing	ORPHA:950
Arima Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Gray matter heterotopia...	OMIM:243910
3P25.3 Microdeletion Syndrome	Brachycephaly	ORPHA:435638
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly	OMIM:618885
Marshall Syndrome	Thickened calvaria, Brachycephaly, Frontal bossing	ORPHA:560
Trisomy 9P	Brachycephaly	ORPHA:236
Warburg Micro Syndrome 3	Brachycephaly	OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Frontal bossing	OMIM:156200
Beck-Fahrner Syndrome	Brachycephaly	OMIM:618798
Zygomycosis	Atelectasis, Abnormal cranial nerve morphology, Pleural effusion, Pneumothorax, Acute infectious ...	ORPHA:73263
Adenylosuccinase Deficiency	Brachycephaly	OMIM:103050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Skull asymmetry	OMIM:614701
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Respiratory tract...	ORPHA:68
20Q11.2 Microduplication Syndrome	Trigonocephaly, Brachycephaly	ORPHA:363659
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Delayed cranial suture closure, Umbilical hernia, Decreased cervical ...	ORPHA:226307
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Microcephaly	ORPHA:3186
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Brachycephaly	ORPHA:2095
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry	OMIM:163200
Momo Syndrome	Brachycephaly, Frontal bossing	ORPHA:2563
Cree Impaired Intellectual Development Syndrome	Brachycephaly	OMIM:606851
Neonatal Marfan Syndrome	Emphysema, Neonatal respiratory distress, Flexion contracture	ORPHA:284979
19P13.13 Microdeletion Syndrome	Dolichocephaly, Brachycephaly	ORPHA:357001
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Recurrent respiratory infections	OMIM:300968
Rubinstein-Taybi Syndrome 1	Recurrent upper respiratory tract infections, Delayed cranial suture closure, Respiratory tract i...	OMIM:180849
Thoracoabdominal Syndrome	Anencephaly, Congenital diaphragmatic hernia, Pulmonary hypoplasia	OMIM:313850
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,...	OMIM:614188
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly	OMIM:613355
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary artery dilatation, Abnormal lung lobation, Alveolar capillary dysplasia, Pleural effusi...	OMIM:265380
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Scoliosis, Delayed cranial suture closure	OMIM:618653
Fabry Disease	Emphysema, Reduced bone mineral density, Arthritis, Respiratory insufficiency	ORPHA:324
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
White-Sutton Syndrome	Brachycephaly, Hypoplasia of the pons	ORPHA:468678
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Recurrent pneumonia, Pleural effusion, Atelectasis	OMIM:306400
Alpha-Mannosidosis, Infantile Form	Pneumonia, Cranial hyperostosis, Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:309282
Craniofrontonasal Syndrome	Coronal craniosynostosis, Brachycephaly, Frontal bossing, Agenesis of corpus callosum	OMIM:304110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Brachycephaly, Abnormal lung lobation	ORPHA:369837
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly	OMIM:614800
Baller-Gerold Syndrome	Brachycephaly, Frontal bossing, Brachyturricephaly	ORPHA:1225
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Lateral ventricle dilatation, Pulmonary hypoplasia	OMIM:263520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Craniosynostosis, Brachycephaly, Frontal bossing	OMIM:245600
1P36 Deletion Syndrome	Spinal canal stenosis, Delayed cranial suture closure, Camptodactyly of finger, 11 pairs of ribs,...	ORPHA:1606
Sweeney-Cox Syndrome	Brachycephaly, Flat occiput	OMIM:617746
Genitopatellar Syndrome	Periventricular heterotopia, Hip contracture, Agenesis of corpus callosum, Knee flexion contractu...	OMIM:606170
Fucosidosis	Brachycephaly	ORPHA:349
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Abnormality of the pulmonary artery	ORPHA:500
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Agenesis of corpus callosum	OMIM:257300
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly	OMIM:212066
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Umbilical hernia, Intervertebral disk degeneration, Recurrent s...	OMIM:188400
Mowat-Wilson Syndrome	Pulmonary artery sling, Anterior plagiocephaly, Agenesis of corpus callosum	ORPHA:2152
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Joint swelling, Eosinophili...	ORPHA:797
Warburg Micro Syndrome 2	Brachycephaly	OMIM:614225
Orofaciodigital Syndrome Type 14	Open operculum, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Par...	ORPHA:434179
9P13 Microdeletion Syndrome	Brachycephaly	ORPHA:324313
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Limitation of joint mobility, Umbilical hernia, Osteolysis,...	ORPHA:285
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Turricephaly, Brachycephaly, Oligozoospermia, Stillbirth, Craniosynostosis, Frontal bossing	ORPHA:95699
Relapsing Polychondritis	Limitation of joint mobility, Arthritis, Atelectasis	ORPHA:728
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly	ORPHA:456312
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly	OMIM:156610
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem	ORPHA:444072
Cerebrooculonasal Syndrome	Craniosynostosis, Brachycephaly, Frontal bossing, Proboscis	OMIM:605627
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thickened calvaria, Brachycephaly	OMIM:309583
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Calvarial hyperostosis	OMIM:101800
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Decreased muscle mass, Abnormal lung lobation, Myofibrillar my...	ORPHA:744
Hamamy Syndrome	Craniosynostosis, Brachycephaly	OMIM:611174
Cerebrofaciothoracic Dysplasia	Brachycephaly	ORPHA:1394
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Craniosynostosis, Brachycephaly, Recurrent sinusitis	OMIM:213980
Loeys-Dietz Syndrome 5	Dolichocephaly, Brachycephaly	OMIM:615582
Coffin-Siris Syndrome 12	Ridged cranial sutures, Delayed cranial suture closure, Joint hypermobility, Radioulnar synostosi...	OMIM:619325
Cornelia De Lange Syndrome 1	Pneumonia, Brachycephaly	OMIM:122470
7Q11.23 Microduplication Syndrome	Dolichocephaly, Brachycephaly, Craniosynostosis	ORPHA:96121
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Monosomy 9P	Trigonocephaly, Brachycephaly, Calvarial skull defect, Agenesis of corpus callosum	ORPHA:261112
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing	ORPHA:1236
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Oxycephaly, Bicoronal ...	OMIM:218600
Weill-Marchesani Syndrome 1	Brachycephaly, Broad skull	OMIM:277600
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
Viss Syndrome	Pulmonary artery aneurysm, Hip dislocation, Umbilical hernia, Emphysema, Recurrent joint dislocat...	OMIM:619472
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Frontal bossing	OMIM:616728
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Recurrent respiratory infections	OMIM:615273
Kaufman Oculocerebrofacial Syndrome	Brachycephaly	OMIM:244450
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Gorlin Syndrome	Brachycephaly, Frontal bossing	ORPHA:377
Yunis-Varon Syndrome	Congenital hip dislocation, Kyphosis, Aspiration pneumonia, Delayed ossification of pubic rami, I...	OMIM:216340
Ayme-Gripp Syndrome	Camptodactyly, Radioulnar synostosis, Delayed cranial suture closure	OMIM:601088
Chand Syndrome	Atelectasis	ORPHA:1401
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly	OMIM:601353
Down Syndrome	Brachycephaly	ORPHA:870
Cartilage-Hair Hypoplasia	Brachycephaly	ORPHA:175
Distal Deletion 3P	Brachycephaly	ORPHA:1620
Yunis-Varon Syndrome	Hip dislocation, Decreased skull ossification, Wide cranial sutures, Short ribs, Absent sternal o...	ORPHA:3472
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly	ORPHA:521445
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Azoospermia, Pulmonary fibrosis, Brachycephaly	ORPHA:2072
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Recurrent respiratory infections	OMIM:619950
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Agenesis of corpus callosum	ORPHA:264200
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ...	ORPHA:261537
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly	OMIM:601701
Weill-Marchesani Syndrome 2	Brachycephaly, Broad skull	OMIM:608328
Hallermann-Streiff Syndrome	Brachycephaly, Frontal bossing	ORPHA:2108
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia...	ORPHA:261552
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Agenesis of corpus callosum, Brachycephaly, Parietal bossing, Recurrent respiratory in...	OMIM:264090
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Frontal bossing	ORPHA:1974
Down Syndrome	Partial anomalous pulmonary venous return, Pulmonary artery stenosis, Brachycephaly	OMIM:190685
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Death in infancy	OMIM:274000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly	OMIM:618223
Treacher-Collins Syndrome	Brachycephaly, Frontal bossing	ORPHA:861
Pallister-Killian Syndrome	Wide anterior fontanel, Congenital hip dislocation, Camptodactyly of 2nd-5th fingers, Umbilical h...	OMIM:601803
Distal Deletion 12Q	Brachycephaly, Frontal bossing	ORPHA:96149
X-Linked Intellectual Disability, Snyder Type	Brachycephaly	ORPHA:3063
Kbg Syndrome	Brachycephaly	OMIM:148050
Acrofrontofacionasal Dysostosis 1	Brachycephaly	OMIM:201180
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Trigonocephaly, Brachycephaly, Craniosynostosis	OMIM:309590
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly	OMIM:616263
Branchioskeletogenital Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:1299
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Abnormal lung lobation, Agenesis of corpus callosum, Brachycephaly,...	OMIM:607872
Carpenter Syndrome 2	Oxycephaly, Trigonocephaly, Brachycephaly, Craniosynostosis, Frontal bossing	OMIM:614976
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Recurrent lower respiratory tract infections, Recurrent upper respi...	ORPHA:293987
Sotos Syndrome	Cerebellar vermis hypoplasia, Ankle flexion contracture, Small cell lung carcinoma, Cerebral atro...	ORPHA:821
Roberts Syndrome	Craniosynostosis, Brachycephaly	ORPHA:3103
Congenital Myopathy 13	Brachycephaly	OMIM:255995
Wiedemann-Rautenstrauch Syndrome	Thickened calvaria, Agenesis of corpus callosum, Frontal bossing, Cranial asymmetry	ORPHA:3455
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly	OMIM:227330
Chime Syndrome	Brachycephaly	ORPHA:3474
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Prominent occiput, Frontal bossing, Turricephaly	OMIM:612474
Renpenning Syndrome 1	Brachycephaly, Death in childhood	OMIM:309500
Peters Plus Syndrome	Brachycephaly, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery, Frontal b...	ORPHA:709
Frontofacionasal Dysplasia	Brachycephaly, Hypoplasia of the frontal bone	OMIM:229400
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Frontal bossing	OMIM:617157
Aspartylglucosaminuria	Thickened calvaria, Brachycephaly, Recurrent respiratory infections	OMIM:208400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Brachycephaly, Hypoplasia of the brainstem, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dolichocephaly, Brachycephaly, Frontal bossing	OMIM:619503
Elsahy-Waters Syndrome	Brachycephaly	OMIM:211380
X-Linked Intellectual Disability, Armfield Type	Brachycephaly	ORPHA:85276
Specc1L-Related Hypertelorism Syndrome	Brachycephaly	ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly	OMIM:610442
Cornelia De Lange Syndrome	Brachycephaly	ORPHA:199
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Craniosynostosis, Brachycephaly, Frontal bossing, Cloverleaf skull	OMIM:201750
Roberts-Sc Phocomelia Syndrome	Craniosynostosis, Brachycephaly, Stillbirth	OMIM:268300
Primrose Syndrome	Brachycephaly	OMIM:259050
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal cerebellar peduncle morphology, Atrophy/Degeneration affecting the brainstem, Aspiration...	ORPHA:99027
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Corpus callo...	OMIM:169500

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Lmnb1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lmnb1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Lmnb1 mutations

Histopathology

IMPC related publications

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