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