Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... |
OMIM:615938 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian) |
|
Enlarged sylvian cistern |
OMIM:615752 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Microcephaly, Simplified gyral pattern, Small cerebral cortex, Abnormal cerebral morphology, Abno... |
ORPHA:329228 |
Pontocerebellar Hypoplasia, Type 12 |
|
Rocker bottom foot, Cerebral atrophy, Lateral ventricle dilatation, Talipes equinovarus, Primary ... |
OMIM:618266 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Hemimegalencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615937 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... |
ORPHA:2004 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Talipes equinovarus, Hand clenching, Agenesis of corpus callosum, V... |
OMIM:619501 |
Masa Syndrome |
|
Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Agenesis of corpus callo... |
ORPHA:2466 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Reduced cerebral white matter volume, Cortical dysplasia, Simplified gyral pattern, Hypoplasia of... |
OMIM:615763 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria, Short palm |
OMIM:300982 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia ... |
OMIM:619420 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal de... |
OMIM:619003 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia |
ORPHA:101071 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Lipedema |
|
Edema |
OMIM:614103 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Abnormal cerebral ... |
OMIM:613443 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Simplified gyral pattern, Ventriculomegaly, Microcephaly |
OMIM:617800 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Talipes equinovarus |
OMIM:619972 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cerebr... |
ORPHA:3207 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Microlissencephaly |
|
Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ... |
ORPHA:1083 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Microcephaly, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Cerebral white ... |
OMIM:618730 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, Vesicour... |
ORPHA:209905 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Abnormal cerebral white matter morphology, Lissencephaly, Secondary... |
OMIM:607432 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Dysphagia |
OMIM:617055 |
Lethal Congenital Contracture Syndrome 11 |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:617194 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly, Clinodactyly of the 5th f... |
OMIM:618010 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... |
OMIM:616733 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Thick cerebral cortex, Lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618677 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... |
OMIM:253300 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly |
OMIM:612691 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Thin corpus callosum, Ventriculomegaly |
OMIM:620106 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk... |
OMIM:615889 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Bowen-Conradi Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Clinodactyly of the 5th finger, Ventri... |
ORPHA:1270 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosum, Prog... |
OMIM:613402 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:300717 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Inability to walk, Ab... |
ORPHA:266 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Hemiatrophy |
ORPHA:306669 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Urinary incontinence, Unsteady gait, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, A... |
ORPHA:98760 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph... |
OMIM:618709 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... |
OMIM:610978 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Anteverted nares, Hypospadias, Rectourethral fistula, Wide nasal... |
OMIM:300000 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... |
OMIM:618291 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Megalencephaly, Diffuse white matter abnormalities, Cerebral atrophy, Diffuse swelling of cerebra... |
OMIM:613925 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Aspiration, Barrett esophagus, Episodic respiratory distress, C... |
ORPHA:1199 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Recurrent respiratory infections, Short stature |
ORPHA:320385 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Single transverse palmar crease, Microcephaly, Partial agenesis of ... |
ORPHA:79243 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ... |
ORPHA:2590 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... |
ORPHA:70588 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly, Microcephaly, Bilateral talipes equinovarus, Hypoplasia of the corpus callosum,... |
OMIM:616486 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2732 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Abnormal acetabulum morphology, Absent septum pellucidum, Postaxial po... |
ORPHA:397715 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Halperin-Birk Syndrome |
|
Inability to walk, Aspiration, Pseudobulbar paralysis, High palate, Death in childhood, Intrauter... |
OMIM:618651 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Talipes equinovarus, ... |
OMIM:607596 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Pulmonary hypoplasia |
OMIM:618174 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Hip subluxation, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpu... |
OMIM:620200 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... |
OMIM:614399 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Lateral ventricle dilatation, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Talipes equinovarus, Agenesis of corpus callosum, Ventriculomegaly, ... |
OMIM:303350 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Dysplastic corpus callosum, Hyperintensity of cerebral white matter ... |
ORPHA:544488 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Butyrylcholinesterase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Respiratory fail... |
ORPHA:132 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Apnea |
OMIM:610992 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Bonnemann-Meinecke-Reich Syndrome |
|
Cerebral calcification, Decreased response to growth hormone stimulation test, Ventriculomegaly, ... |
ORPHA:1261 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Abnormality of the hand, Basal ganglia calcification, Cerebral atrophy, Leukoenc... |
OMIM:221770 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Adducted thumb |
ORPHA:324422 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly |
OMIM:619725 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Cerebral atrophy, Partial agenesis of the ... |
OMIM:617296 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Hydrocephalus, Small h... |
ORPHA:500055 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Lissencephaly 3 |
|
Agyria, Microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of c... |
OMIM:611603 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:380 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Thin corpus callosum, Micr... |
OMIM:619517 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly |
ORPHA:1568 |
Achondrogenesis Type 2 |
|
Short stature, Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Corpus callosum atrophy, Cerebral cortical atrophy, Leukoencephalopathy, Ventriculomegaly |
OMIM:620314 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly |
OMIM:616540 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Inability to walk, Atelectasis, Respiratory insufficiency, Dy... |
ORPHA:258 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Reduced cerebral white matter volume, Microcephaly, Co... |
OMIM:615574 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lateral ventricle dilatation, Bilateral talipes equinovarus, Lissenceph... |
ORPHA:284417 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul... |
ORPHA:85179 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Fetal pyelectasis, Megacyst... |
OMIM:619365 |
Glutamine Deficiency, Congenital |
|
Micromelia, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
OMIM:610015 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Thin corpus callosum, Shortening of all distal phalanges of the fin... |
OMIM:615716 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:255320 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly, Pachygyria |
OMIM:614870 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly |
OMIM:618286 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:618736 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Unsteady gait, Difficulty walking, Dysphagia, A... |
ORPHA:600 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum |
OMIM:613162 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... |
ORPHA:2902 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Death in infancy, Neonatal respiratory distress, Short stature, Dysphagia, Aspiration, Self-mutil... |
OMIM:618922 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Meta... |
ORPHA:356961 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... |
OMIM:615771 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, High pa... |
OMIM:611890 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle... |
OMIM:614219 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Pneum... |
ORPHA:36238 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Bulbous nose, Tongue thrusting, Athetosis, Bruxism, Aspiration, Abnormal ... |
OMIM:613454 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly |
OMIM:618383 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Postnatal growth retardation, High, narrow palate, Aspiration, Horseshoe kidney, Ora... |
ORPHA:96182 |
Adnp Syndrome |
|
Respiratory distress, Recurrent urinary tract infections, Short stature, Depressed nasal bridge, ... |
ORPHA:404448 |
Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia, Respiratory insufficiency, Intra... |
ORPHA:2655 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Broad thumb, Ventriculomegaly, Short finger |
OMIM:300209 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... |
ORPHA:1302 |
Ogden Syndrome |
|
Apnea, High palate, Aspiration, Intrauterine growth retardation, Abnormal repetitive mannerisms, ... |
OMIM:300855 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatation, Joint contra... |
OMIM:618914 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly |
OMIM:619323 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Death in infancy, Short stature, Mesomeli... |
OMIM:184260 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Microcephaly, Calcaneov... |
ORPHA:3078 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Reduced cerebral white matter volume, Corpus callosum atrophy, Hippocampal atrophy, Thin corpus c... |
OMIM:301107 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test... |
ORPHA:96179 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Dysphagia, Loss of ambulation, Exertional dyspnea |
ORPHA:254361 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Broad hallux phalanx, Toe syndactyly, Ventriculomegaly |
ORPHA:168624 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Respiratory insufficiency, Disproportionate short-limb short stature, Pulmo... |
OMIM:224410 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, A... |
OMIM:618414 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Short stature, Polyuria, Megacystis |
OMIM:125800 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Short stature, Polyuria, Megacystis |
OMIM:304800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Ileal atresia, Peritonitis, Megacysti... |
OMIM:619351 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Simplified gyral pattern, Short finger, Primary microcephaly... |
OMIM:619180 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation, Microcephaly |
OMIM:609637 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the corpus ca... |
OMIM:304100 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Depressed nasal bridge, Protruding tongue, Broad nasal tip, Gai... |
OMIM:619777 |
Adrenomyodystrophy |
|
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Abnormal intestine morphology |
ORPHA:977 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Intrauterine growth retar... |
OMIM:618253 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Pontocerebellar Hypoplasia, Type 13 |
|
Single transverse palmar crease, Microcephaly, Clubbing, Lateral ventricle dilatation, Hypoplasia... |
OMIM:618606 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Anterior hypopituitarism, Short stature, Pulmonary hypoplasia |
OMIM:241800 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:616602 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Ataxia, Dysmetria, Dysphagia |
OMIM:614688 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Im... |
ORPHA:2131 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Ataxia, Dysphagia |
OMIM:618637 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microcephaly, Lateral ventricle dilatation, Hypopl... |
OMIM:614105 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep... |
OMIM:617090 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Growth delay, Apnea, Respiratory insufficiency |
ORPHA:209370 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Microcephaly, Cerebral atrophy, Hip dysplasia, Hypoplasia of the corpus callosum, Periventricular... |
OMIM:619701 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Fetal Akinesia Deformation Sequence |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:994 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypermobility of toe joints, Hyperextensibility of the finger joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Agenesis of corpus ca... |
OMIM:617127 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... |
ORPHA:565624 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Ventriculomegaly, Microcephaly |
ORPHA:2515 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... |
OMIM:307000 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia |
OMIM:606070 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Ventriculomegaly, Microcephaly |
ORPHA:1980 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Intestinal ma... |
ORPHA:244 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Erythema, Aspiration, Growth delay, Stridor, High palate, I... |
OMIM:614653 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Death in infancy, Low cholesterol ... |
OMIM:607625 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria, Thin corp... |
OMIM:608629 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,... |
OMIM:175700 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Elevated circulating... |
ORPHA:454836 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Respiratory failure |
ORPHA:890 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Disproportionate short-limb short stature, Pulmonary hypoplasia, N... |
OMIM:187600 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Simplified gyral patter... |
ORPHA:300570 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, High pal... |
OMIM:300219 |
Peho-Like Syndrome |
|
Tapered finger, Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachy... |
OMIM:617507 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Choanal atresia, Protruding tongue, Aspiration, Dysmetria, Pseudobulbar paralysis, Dysphag... |
ORPHA:98889 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt... |
ORPHA:208447 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Respiratory failure, Tongue fasciculations, Dysphagia, Loss of ambulation |
OMIM:613435 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Neuralgic Amyotrophy |
|
Cleft palate, Acrocyanosis, Short stature, Respiratory insufficiency |
ORPHA:2901 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... |
OMIM:612387 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Single transverse palmar crease, Reduced cerebral white matter volume, Lateral ventricle dilatati... |
OMIM:620075 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pachygyria, Ventriculomegaly, Microcephaly |
OMIM:617613 |
Malan Overgrowth Syndrome |
|
Slender long bone, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:420179 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Agitation, Dysphagia |
ORPHA:2148 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon |
OMIM:619362 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Progressive microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventricul... |
OMIM:617862 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... |
OMIM:620249 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... |
ORPHA:308552 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Abnormality of the tongue muscle, Respiratory... |
ORPHA:370968 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:615348 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca... |
OMIM:617977 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Gait ataxia, Respiratory failu... |
ORPHA:363400 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Cerebral calcification, Microcephaly, Leukoencephalopathy, Focal white matter lesions, Ventriculo... |
OMIM:612951 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Hepatic fai... |
OMIM:619431 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Pulmonary hypoplasia |
ORPHA:1486 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Hypergonadotropic hypogonadism, Apnea, Asthma, Type II diabetes... |
ORPHA:10 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Ventriculomegaly, Microcephaly |
OMIM:247990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Familial Visceral Myopathy |
|
Hydroureter, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Megacystis, Cleft p... |
ORPHA:2604 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2nd finger, Abnormal epiphysi... |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... |
OMIM:617751 |
Tonne-Kalscheuer Syndrome |
|
Growth delay, Short stature, Pulmonary hypoplasia |
OMIM:300978 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Generalized dystonia, Ataxia, Inability to... |
ORPHA:70472 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma |
ORPHA:122 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Talipes equinovarus |
OMIM:256850 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... |
OMIM:245400 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... |
ORPHA:3309 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Serkal Syndrome |
|
Growth delay, Abnormality of the adrenal glands, Pulmonary hypoplasia |
ORPHA:139466 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Death in infancy, Increased circulating free fatty acid level |
OMIM:610768 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Neonatal short-limb short sta... |
OMIM:151210 |
Cach Syndrome |
|
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Lateral ventricle dilatation, Dysgyria |
ORPHA:135 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Hydrocephalus, Polydactyly, Cavum septum pellucidum, Polymicrogyria, ... |
OMIM:602501 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortica... |
ORPHA:939 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Aicardi Syndrome |
|
Proximal placement of thumb, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, C... |
OMIM:304050 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Apnea |
OMIM:619048 |
Diaphanospondylodysostosis |
|
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Pulm... |
OMIM:608022 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Apnea, Stillbirth, Disproportionate short-lim... |
OMIM:241500 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Microcephaly, Partial agenesis o... |
ORPHA:434179 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:225753 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... |
OMIM:620326 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia,... |
OMIM:601186 |
Ravine Syndrome |
|
Apnea |
ORPHA:99852 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Unsteady gait, Multiple renal cysts, Reduced renal corticomedullary differe... |
OMIM:618733 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Compulsive behaviors, Vesicoureteral reflux, Aspiration, Abnormal repetitive manneri... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Compulsive behaviors, Vesicoureteral reflux, Aspiration, Abnormal repetitive manneri... |
ORPHA:353277 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Broad finger, Hypoplasia of the corpus c... |
OMIM:616900 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Lethargy |
ORPHA:71277 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
2Q24 Microdeletion Syndrome |
|
Growth delay, Central apnea |
ORPHA:1617 |
Lissencephaly 6 With Microcephaly |
|
Single transverse palmar crease, Tapered finger, Microcephaly, Partial agenesis of the corpus cal... |
OMIM:616212 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum |
OMIM:617854 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... |
ORPHA:99931 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... |
ORPHA:2512 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fi... |
OMIM:612863 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Single transverse palmar crease, Microcephaly, Squared iliac bones, Small hand, Hypop... |
OMIM:611209 |
1Q41Q42 Microdeletion Syndrome |
|
Growth delay, Hypergonadotropic hypogonadism, Short stature, Pulmonary hypoplasia |
ORPHA:250999 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:1046 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy |
ORPHA:500545 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration, Ataxia |
OMIM:617020 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Neonatal respiratory distress, Apnea, Elev... |
ORPHA:168486 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis, Narrow nasal bridge |
ORPHA:896 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Cortical dysplasia, Upper limb hypertonia, Ventriculomegaly, Microcephaly |
ORPHA:319199 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Porencephalic cyst, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Intermediate Nemaline Myopathy |
|
High, narrow palate, Dysphagia, Respiratory failure, Difficulty walking, Long philtrum |
ORPHA:171433 |
17P13.3 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplasia of the corpus callosum, Ve... |
ORPHA:217385 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Anal stenosis, Abnormal nasopharynx morphology, Ab... |
OMIM:604292 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Tongue fasciculations |
OMIM:600561 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation |
OMIM:608013 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology |
OMIM:617050 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, High palate, Mac... |
OMIM:608836 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Akinesia, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Microcephaly, 2-3 ... |
ORPHA:96148 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, ... |
OMIM:207950 |
Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:312150 |
Thanatophoric Dysplasia, Type Ii |
|
Ventriculomegaly, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphys... |
OMIM:187601 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insuffici... |
OMIM:220110 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:3035 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Deep palm... |
ORPHA:293725 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Brachydactyly |
OMIM:619995 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs, Short stature |
ORPHA:2204 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia |
OMIM:616897 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Arachnodactyly, Ventriculomegaly, Primary microcephaly |
ORPHA:2172 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Nasal... |
ORPHA:137914 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Apnea, Respiratory insufficiency |
OMIM:618226 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Pulmonary hypoplasia |
ORPHA:79321 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Prominent nose, Facial erythema, High palate, Aspiration, Micropenis, Pelvic kidney, Neona... |
OMIM:619503 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, G... |
ORPHA:263487 |
Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency |
ORPHA:474 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokin... |
ORPHA:98755 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Abnormal cerebral white matter morphology, Dilated third ventricle, Cerebral atrophy |
ORPHA:314404 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:1865 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:617051 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Rhizomelia, Upper airway obstruction, Pulmonary hypoplasi... |
OMIM:100800 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites |
OMIM:269920 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Respiratory f... |
OMIM:606612 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Genitopatellar Syndrome |
|
Apnea, Short stature, Pulmonary hypoplasia |
ORPHA:85201 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency |
OMIM:618228 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:253290 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermi... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Intermi... |
ORPHA:590 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... |
ORPHA:449280 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... |
OMIM:605711 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Atelectasis, Anosmia, Bronchiectasis, Im... |
OMIM:244400 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Short stature |
OMIM:615031 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Hyperekplexia 4 |
|
Respiratory failure, High palate |
OMIM:618011 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Abnormal periventricular wh... |
OMIM:614066 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Apnea, Central hypoventilation, Nephrogenic diabetes insipidus, Neonatal death,... |
OMIM:620167 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas,... |
ORPHA:79644 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:141333 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hydrocephalus, Hypoplasia of the corpus callosum, Clinodactyly, Age... |
OMIM:618577 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Lateral ventricle dilatation, Short long bone, Smal... |
OMIM:619479 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Ataxia, Tremor, Dysmetria, Gait ataxia, Narrow palate, Respiratory fa... |
OMIM:616505 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia |
ORPHA:85166 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Lissencephaly 8 |
|
Type II lissencephaly, Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Poly... |
OMIM:617255 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Megacystis, ... |
ORPHA:2241 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia |
OMIM:230900 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gingival overgrowth, Respiratory insufficiency, Narrow palate, Respiratory failure, High palate, ... |
OMIM:618186 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Diffuse cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly |
OMIM:615362 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Toe syndactyly, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:228384 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Hydrocephalus, Anencephaly... |
OMIM:269860 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Opisthotonus, Chore... |
ORPHA:445038 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Developmental And Epileptic Encephalopathy 99 |
|
Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,... |
OMIM:619606 |
Tibial Muscular Dystrophy |
|
Respiratory failure, Steppage gait, Mildly elevated creatine kinase, Difficulty walking |
ORPHA:609 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal palate morphology, Torticollis, Elevated circulating creatine kinase concentration, Resp... |
ORPHA:75840 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:86822 |
Trisomy 5P |
|
Ventriculomegaly, Abnormal metacarpal morphology |
ORPHA:1742 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Frontal cortical atrophy, Ventriculomegaly |
OMIM:300699 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Partial agenesis of the corpus callosum, Delayed epi... |
OMIM:210710 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Protruding tongue, Inability to walk, ... |
OMIM:619580 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617967 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Hypoplasia of the corpus callosum, Camptodactyly of finger, Ventriculomegaly, Microcephaly |
ORPHA:1495 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Ataxia, Tachypnea, Respiratory insufficienc... |
OMIM:614299 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea |
OMIM:256030 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration, Difficulty walking, Dysp... |
OMIM:613954 |
Developmental And Epileptic Encephalopathy 70 |
|
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
OMIM:618298 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia ... |
OMIM:613177 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure, Dysphagia |
OMIM:618233 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Atelectasis, Wide nasal bridge, Clef... |
ORPHA:2314 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:618198 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebral atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Ce... |
ORPHA:572798 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:617761 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:251230 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Abnormal circulating creatine kinase concentration, Gait ... |
OMIM:615838 |
Tenorio Syndrome |
|
Recurrent pneumonia, Apnea, Hypoinsulinemia |
OMIM:616260 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Abnorm... |
OMIM:256000 |
Meckel Syndrome 14 |
|
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the corpus callosum, Short cor... |
ORPHA:255138 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Cerebral cortica... |
ORPHA:3224 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Protein-... |
ORPHA:79327 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Upper limb hype... |
ORPHA:2524 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia |
OMIM:608149 |
Hemimegalencephaly |
|
Pachygyria, Hemimegalencephaly, Hyperintensity of cerebral white matter on MRI, Focal cortical dy... |
ORPHA:99802 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... |
ORPHA:2414 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:248700 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respirat... |
OMIM:609981 |
Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Absent sept... |
OMIM:182230 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Caudate atrophy, Frontal cortical atrophy, Temporal cortical atrophy, Ventriculomegaly |
ORPHA:137831 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Microcephaly, Small hand, Short foot, Clinod... |
OMIM:300590 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Growth delay, Stridor, Bronchospasm, Abnormal pattern of respira... |
OMIM:608800 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Microcephaly, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral co... |
OMIM:611182 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Microcephaly, Cerebral atrophy, Primary microcephaly |
OMIM:619847 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Short middle phalanx of finger, Rounded middle phalanx of finger, Cerebral cortical atrophy, Vent... |
ORPHA:2158 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... |
ORPHA:1263 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cerebral atrophy, Thin corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:619851 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Microcephaly, Abnormal thalamus morphology, Pachygyria, Abnormality of the inte... |
ORPHA:467166 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven... |
ORPHA:2822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Abnormal cerebral whi... |
OMIM:613153 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... |
OMIM:620014 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
ORPHA:352447 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Abnormal cerebral white matter morphology, Lateral ventricle dilatati... |
ORPHA:457279 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Microcephaly, Abnormal epiphysis morphology, Ventriculomegaly, Brachydactyly |
ORPHA:2643 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Hypophosphatasia |
|
Emphysema, Short stature, Respiratory insufficiency |
ORPHA:436 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... |
OMIM:616362 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Clinodactyly of the 5th finger, Agenes... |
ORPHA:251056 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ventriculomegaly |
OMIM:206570 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Abnormal concentration of... |
ORPHA:391428 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Tubulointerstitial nephritis, Cough, Acrocyanosis, Glomerulopathy, Respiratory insuffi... |
ORPHA:183 |
Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Wide mouth, Respiratory f... |
ORPHA:1194 |
Noonan Syndrome 14 |
|
Scapular winging, Lateral ventricle dilatation, Deep palmar crease, Cubitus valgus, Clinodactyly,... |
OMIM:619745 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1188 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Single transverse palmar crease, Reduced cerebral white matter volume, Tapered f... |
OMIM:617807 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Inappropriate antidiuretic hormone secretion, Hypot... |
ORPHA:79330 |
Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Microcephaly, Small hand, 2-3 toe syndactyly, Short foot, Lateral ventricle dilatatio... |
OMIM:619229 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Decreased response to growth hormone stimulation test, Ventriculomeg... |
OMIM:615286 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Dysplastic corpus callosum, Short thumb, Split hand, Microcephaly,... |
OMIM:618569 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Abnormal cerebral white matter morphology, Pachygyria, Ventriculomegaly, Microcephaly |
ORPHA:370980 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:521390 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... |
OMIM:620166 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, High palate, Beta-aminoisobutyric aciduria, Respiratory insufficiency |
OMIM:615330 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
Bilateral Frontoparietal Polymicrogyria |
|
Cortical dysplasia, Cerebral dysmyelination, Ventriculomegaly, Microcephaly |
ORPHA:101070 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... |
ORPHA:365 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly, Hypoplasia of ... |
OMIM:617784 |
Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
Weiss-Kruszka Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Colpocephaly, Hypoplasia of the cor... |
OMIM:618619 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:618975 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... |
OMIM:610600 |
Atypical Rett Syndrome |
|
Growth delay, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Ventriculomegaly |
OMIM:618251 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Thick corpus callosum, Ventriculomegaly |
OMIM:618273 |
Teebi Hypertelorism Syndrome 1 |
|
Short stature, Pulmonary hypoplasia |
OMIM:145420 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progressive microcephaly, Hypoplasia of... |
OMIM:615760 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Atelectasis, Oliguria, ... |
ORPHA:319213 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Acro-Renal-Mandibular Syndrome |
|
Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Clinodactyly of the 5th finger, Overlapping toe, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618974 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, D... |
ORPHA:330021 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Ventriculomegaly, Diffuse cerebral atrophy |
OMIM:230650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Ventriculomegaly |
OMIM:613151 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Anteverted nares, Repeated pneumothoraces, Depressed nasal ... |
ORPHA:536467 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, V... |
OMIM:616034 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Adduct... |
ORPHA:2182 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Inability... |
ORPHA:70 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus |
ORPHA:3305 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... |
ORPHA:199241 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Short stature, Hypogonadism, Pulmonary hypoplasia, Intrauterine gr... |
ORPHA:2990 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... |
ORPHA:487825 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Hypoplasia of the thymus, Pulmonary hypoplasia |
OMIM:617022 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormal pleura morphology |
ORPHA:2570 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly, Microcephaly |
OMIM:619150 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Dyspnea, Hydrocephalus,... |
ORPHA:538 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Frontal cortical atrophy, Ventriculomegaly |
ORPHA:206559 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... |
OMIM:618603 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, ... |
OMIM:615512 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... |
OMIM:603689 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis |
OMIM:602390 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Abnormal lung lobation, Anomalous pulmonary venous return, Respiratory insuffic... |
ORPHA:1120 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Increased circulating gonadotropin... |
ORPHA:99330 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... |
ORPHA:731 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Microcephaly, Lateral ventricle dilatation, Polydactyly, Hy... |
OMIM:619869 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:85277 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea |
OMIM:619527 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... |
ORPHA:79345 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Short stature |
ORPHA:2145 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Long fingers, Cortical dysplasia, Lateral ventricle dilatation, Finger... |
OMIM:617557 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly |
OMIM:300088 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Elevated circulat... |
ORPHA:496641 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Pulmonary hypoplasia |
OMIM:612530 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Short stature, Pulmonary arterial medial hypertrophy, Respiratory insuff... |
OMIM:601559 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Ataxia, Tongue fasciculations, Congenital laryngeal stridor |
ORPHA:2254 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Rahman Syndrome |
|
Thin corpus callosum, Talipes equinovarus, Ventriculomegaly, Camptodactyly |
OMIM:617537 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Death in infancy, Short stature, Respiratory insufficiency, Pul... |
OMIM:208500 |
Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Clinoda... |
OMIM:300337 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Rectal prolapse, Intrauterine growth retardation, Convex nasal ridge |
OMIM:619793 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia, Maternal diabetes |
ORPHA:3027 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malform... |
ORPHA:2611 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute... |
ORPHA:542323 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Decreased response to growth hormone stimulation test, Anterior pituitary hypopl... |
ORPHA:177907 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:457260 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Severe short stature |
ORPHA:932 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Arachnodactyly, Microcephaly, Contracture of the proximal interphala... |
OMIM:615485 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy, Hypothyroidism |
OMIM:301058 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm, Agenesis of corpus callosum, Vent... |
ORPHA:238750 |
Hsd10 Disease |
|
Frontotemporal cerebral atrophy, Focal white matter lesions, Ventriculomegaly, Microcephaly |
ORPHA:391417 |
Propionic Acidemia |
|
Tachypnea, Short stature, Apnea |
OMIM:606054 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... |
OMIM:600325 |
6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly, Hydrocephalus |
ORPHA:251046 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Disproportionate short stature, Severe short stature |
ORPHA:93298 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Pulmonary hypoplasia |
ORPHA:1190 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculomegaly |
OMIM:614254 |
Galloway-Mowat Syndrome 5 |
|
Periventricular leukomalacia, Pachygyria, Ventriculomegaly, Primary microcephaly |
OMIM:617731 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... |
ORPHA:98754 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Pulmonary hypoplasia |
OMIM:614091 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Cortical dysplasia, Small hand, Simplified gyral pattern, Short foot, Abnormal cerebr... |
OMIM:300354 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency |
ORPHA:93274 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:618008 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ... |
ORPHA:557003 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Hypoplasia of the corpus callosum, Short finger, Clinodactyly, Thin corpus callosum |
OMIM:300049 |
Kohlschutter-Tonz Syndrome |
|
Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:226750 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory i... |
OMIM:310200 |
Distal Triplication 15Q |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:314588 |
Microhydranencephaly |
|
Microcephaly, Talipes equinovarus, Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Vent... |
OMIM:605013 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Mehmo Syndrome |
|
Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Ventric... |
OMIM:300148 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Short stature, Apnea, Cough |
ORPHA:579 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Rhizomelia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:616300 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:272 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Megalencephaly, Pachygyria, Hydrocephalus, Thick corpus callosum, Hypoplas... |
OMIM:603387 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Ventriculomegaly |
ORPHA:66629 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal atresia |
OMIM:276950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... |
ORPHA:98793 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Microcephaly, Hydrocephalus, Colpocephaly, Hammertoe, Hip dysplasia, Acetabular dyspl... |
OMIM:619833 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Vesicoureteral reflux, Short stature, Hypospadias, Spina bifida, Atelecta... |
ORPHA:567 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Perisylvian polymicrogyria, Cerebral dysmyelination, Ventriculomegaly |
OMIM:606854 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Oxoglutarate Dehydrogenase Deficiency |
|
Ventriculomegaly |
OMIM:203740 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Short stature, Apnea |
OMIM:314580 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cerebra... |
OMIM:618659 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... |
ORPHA:177904 |
Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnormal repetitive ma... |
ORPHA:534 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... |
OMIM:235200 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Abnormal epiphysis morphology, Cerebral cortical atrophy, ... |
ORPHA:2770 |
Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Short stature, Decreased resp... |
ORPHA:177901 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hypoplastic is... |
OMIM:617866 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Partial ag... |
OMIM:620113 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short stature, Pulmonary hypoplasia |
OMIM:615503 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Femoral-Facial Syndrome |
|
Short femur, Coxa vara, Abnormal fibula morphology, Aplasia/Hypoplasia of the corpus callosum, Ab... |
ORPHA:1988 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... |
OMIM:212140 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
Snakebite Envenomation |
|
Epistaxis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respiratory para... |
ORPHA:449285 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Re... |
ORPHA:2707 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Avascular necrosis of the capital femoral epiphysis, Ventriculomegaly |
OMIM:611555 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Acrocyanosis, Transient nephrotic syndrome |
OMIM:123540 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Adrenal hypoplasia, Death in childhood |
OMIM:214100 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Short stature, Abnormal lung lobation, Growth delay, Intrauterine growth retardation, Hypo... |
ORPHA:1052 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Severe short stature |
ORPHA:2635 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:617493 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sys... |
ORPHA:98905 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebral calcification, Hydrocephalus, Cerebral atrophy, Progressive microcephaly, Ventriculomegaly |
OMIM:610333 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ventriculomegaly |
OMIM:616116 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Microcephaly, Talipes equinovarus, Hypoplasia of the corpus callosum, Ventriculomegaly, Adducted ... |
OMIM:612936 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615433 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, Flared metaphys... |
OMIM:252100 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Narp Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Corticospinal tract atrophy, Cerebral cortical atrop... |
ORPHA:644 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Anteverted nares, Aggressive b... |
ORPHA:293987 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Mosaic Trisomy 16 |
|
Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia, Maternal diabetes |
ORPHA:1708 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Growth delay, Apnea, Respiratory insufficiency |
OMIM:614462 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... |
ORPHA:79312 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Prominent fingertip pads, Clinodactyly of the 5th finger, Ventriculomegaly |
OMIM:615637 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, H... |
OMIM:601707 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Microcephaly, Small hand, Short foot, Clinodactyly o... |
OMIM:300882 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Short stature, Tachypnea, Pulmonary artery atresia, Aplasia/Hypopla... |
ORPHA:3426 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Severe short stature |
ORPHA:93299 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Microcephaly, Lateral ventricle dilatation, Hypoplasi... |
OMIM:618367 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Polymicrogy... |
ORPHA:60040 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Apnea |
OMIM:300055 |
Achondrogenesis, Type Ia |
|
Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia |
OMIM:200600 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Dravet Syndrome |
|
Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode |
ORPHA:33069 |
Lethal Congenital Contracture Syndrome 9 |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:616503 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
Temtamy Syndrome |
|
Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus, Agenesis of corpus ca... |
OMIM:218340 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Death in infancy, Opisthotonus |
OMIM:610678 |
Pontocerebellar Hypoplasia, Type 9 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebral... |
OMIM:615809 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:500180 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Intrauterine growth retardation, Apnea, Death in childhood |
OMIM:214110 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614583 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Juvenile Huntington Disease |
|
Abnormal cerebral white matter morphology, Neuronal loss in basal ganglia, Ventriculomegaly |
ORPHA:248111 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interst... |
ORPHA:420741 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Absent thumb, Mi... |
OMIM:609053 |
Christianson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventriculomeg... |
ORPHA:85278 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Diffuse white matter abnormalities, 2-3 toe syndactyly, Agenesis of... |
OMIM:218000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... |
OMIM:617542 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hydrocephalus, Hip dislocation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Pulmonary hy... |
OMIM:308050 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Niemann-Pick Disease Type C |
|
Tremor, Abnormal lung morphology, Abnormality of the liver, Progressive gait ataxia, Aspiration p... |
ORPHA:646 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench femoral neck, Absent... |
OMIM:618870 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy... |
OMIM:620278 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Epiphyseal dysplasia, Agenesis of corpus callosum, Dysplasia of the f... |
OMIM:616854 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... |
OMIM:214150 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependence ... |
OMIM:604320 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Atelosteogenesis Type Ii |
|
Rhizomelic arm shortening, Tracheobronchomalacia, Rhizomelia, Pulmonary hypoplasia |
ORPHA:56304 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Aplasia/Hypoplasia of the corpus callosum, ... |
OMIM:617822 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short stature, Pulmonary hypoplasia |
OMIM:619148 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Secondary microcephaly, Ventriculomegaly |
OMIM:613730 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Noonan Syndrome 12 |
|
Proximal placement of thumb, Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:618624 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Tapered... |
ORPHA:505237 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Fusion of the left and righ... |
ORPHA:59315 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Secondary microcephaly, Prima... |
ORPHA:500144 |
Joubert Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Apnea, Episodic tachypnea, Abnormal pattern of re... |
ORPHA:475 |
Neuronal Intranuclear Inclusion Disease |
|
Leukoencephalopathy, Ventriculomegaly |
OMIM:603472 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... |
OMIM:620025 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Partial agenesis of the corpus callosum, Thin corpus cal... |
OMIM:619775 |
Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
49,Xxxyy Syndrome |
|
Increased circulating gonadotropin level, Finger clinodactyly, Abnormal cerebral white matter mor... |
ORPHA:261534 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Femur fracture, Lateral ventricle dilatation |
OMIM:612301 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Microcephaly, Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corp... |
ORPHA:314679 |
Pitt-Hopkins Syndrome |
|
Overhanging nasal tip, Ataxia, Aganglionic megacolon, Anteverted nares, Aggressive behavior, Post... |
ORPHA:2896 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Choroid plexus cyst, Patella... |
OMIM:603671 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Congenital hip dislocation, Dysplastic corpus ca... |
ORPHA:357058 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Abnormal cerebral white matter morphology, Ventriculomegaly, Cerebral atrophy |
OMIM:617268 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Bradykinesia, Inap... |
OMIM:168605 |
Myotonia Fluctuans |
|
Stridor, Apnea |
ORPHA:99734 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Periv... |
ORPHA:485350 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Microcephaly, Perisylvian polymicrogyria, 2-3 toe syndactyly, Hypopl... |
OMIM:619121 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Cerebral calcification, Hyperlipidemia, Hypoplasia of the corpus callos... |
ORPHA:199276 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Short stature, Pulmonary hypoplasia |
OMIM:259775 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, 2-3 toe syndactyly, Cutaneous finger s... |
ORPHA:314389 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... |
ORPHA:1788 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites |
OMIM:253250 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, P... |
ORPHA:73263 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Decreased response to growth hormone stimulation test, Broad hallux, Tapered finger, ... |
OMIM:615873 |
Smith-Magenis Syndrome |
|
Ventriculomegaly, Hypertriglyceridemia, Broad palm, Short palm, Hypercholesterolemia, Abnormal fo... |
OMIM:182290 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Increased circulating free fatty acid level,... |
ORPHA:26793 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... |
ORPHA:88618 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... |
ORPHA:85451 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Broad thumb, Ventriculomegaly |
ORPHA:261295 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hy... |
ORPHA:79404 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Corpus callosum atrophy, Ventriculomegaly |
OMIM:616680 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Lacticaciduria, Methylma... |
ORPHA:506 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Microcephaly, Hip dislocation, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Vent... |
OMIM:613156 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Recurrent respiratory infections, Respiratory failure, Hepatomegaly |
ORPHA:3226 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Fibrodysplasia Ossificans Progressiva |
|
Elevated circulating alkaline phosphatase concentration, Respiratory failure, Widely spaced teeth... |
OMIM:135100 |
Rett Syndrome |
|
Short stature, Apnea, Intermittent hyperventilation |
OMIM:312750 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... |
OMIM:201475 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Ataxia, Gastritis, Tachypnea, Episodic respiratory distress, Renal... |
ORPHA:31826 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Short proximal phalanx of finge... |
OMIM:616638 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking |
ORPHA:280210 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Hypogonadism, Pulmonary hypoplasia |
ORPHA:2671 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Growth delay,... |
ORPHA:261476 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Pagod Syndrome |
|
Death in infancy, Short stature, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality o... |
ORPHA:991 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Greenberg Dysplasia |
|
Rhizomelia, Abnormal lung lobation, Severe short-limb dwarfism, Stillbirth, Pancreatic islet-cell... |
OMIM:215140 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Tachypnea, Apnea |
ORPHA:2318 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Hip dysplasia, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Ventriculomegal... |
OMIM:618381 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebral cortical atrophy, Ventriculomegaly |
OMIM:619922 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Microcephaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis... |
OMIM:225790 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Tapered finger, Short 4th toe, Ventriculomegaly, Short 3rd toe |
OMIM:618707 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Hypocholesterolemia |
OMIM:618810 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic... |
OMIM:618329 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Respiratory insufficiency |
OMIM:608093 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Microcephaly, Hyperlipidemia, Deep palmar crease... |
ORPHA:254346 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Renal agenesis, Partial anosmia, Total anosmia, Midgut malrotation, Clef... |
ORPHA:2326 |
Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:3412 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Lissencephaly |
OMIM:300215 |
Goodpasture Syndrome |
|
Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... |
OMIM:233450 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis |
OMIM:255120 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:218350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hip dislocation, Ventriculomegaly, Microcephaly |
OMIM:619059 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Epiphyseal stippling, Abnormal limb bone morphology, Single transverse palmar crease, Ventriculom... |
ORPHA:251009 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Tachypnea, Pulmonary fibrosis |
OMIM:615934 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Clino... |
OMIM:618804 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Ge... |
OMIM:615630 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Ventriculomegaly, Micromelia |
ORPHA:2772 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Submucous cleft hard palate, Thick lower lip ver... |
OMIM:619103 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Jaundice, Dysphagia, Hypopnea, Respiratory failure, 3-Methylglut... |
OMIM:617248 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Clinodactyly,... |
ORPHA:2169 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Short stature, Pulmonary hypoplasia |
OMIM:265000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Growth delay, Recurrent respiratory infections, Apnea, Respiratory distress |
ORPHA:17 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Ataxia, Elevated circulating creatine kinase concentration, Tremo... |
OMIM:610505 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Basal ganglia ca... |
OMIM:617281 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas... |
ORPHA:51636 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory failure, Agitation |
ORPHA:803 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple ... |
ORPHA:2728 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta... |
OMIM:618278 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Joubert Syndrome With Renal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis, Akinesia |
OMIM:607598 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Respiratory insufficiency, Respiratory failure, Tip-toe gait, Diffuse hepatic steato... |
ORPHA:746 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the parathyroid gland |
ORPHA:3429 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis, Prominent nose, Truncal ataxia |
OMIM:614407 |
Lipoyltransferase 1 Deficiency |
|
Abnormal cerebral white matter morphology, Ventriculomegaly |
OMIM:616299 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Rocker bottom foot, Camptodactyly |
OMIM:604273 |
Meier-Gorlin Syndrome 4 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature |
OMIM:613804 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Broad-based gait, Ataxia, Steatorrhea, Dysmetria, Ga... |
ORPHA:14 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Short stature, Apnea, Intrauterine growth retardation |
ORPHA:97297 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:290 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Absent septum pellucidum, Microcephaly, Elbow flexion contracture, Broad palm, A... |
OMIM:300868 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Marshall-Smith Syndrome |
|
Short stature, Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia... |
OMIM:602535 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hypoplasia, Diaphyseal th... |
OMIM:151050 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Decreased r... |
ORPHA:1855 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral ventricle dilatat... |
OMIM:181270 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
OMIM:300863 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Postnatal growth retardation, Pneumothorax, Birth length... |
ORPHA:3404 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal... |
OMIM:613658 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... |
ORPHA:3447 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Growth delay, Chronic rhiniti... |
ORPHA:667 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
Alg9-Cdg |
|
Rhizomelia, Asthma, Abnormal lung lobation, Hypoplasia of the ovary, Pulmonary hypoplasia |
ORPHA:79328 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Respiratory failure |
ORPHA:83313 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Secondary microcephaly, Ventriculomegaly |
OMIM:618241 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Hypospadias, Eso... |
OMIM:265380 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Cerebral white matter hypoplasia, Periventricular white matter hyperintensities, Ventriculomegaly... |
ORPHA:500533 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Renal cyst, Death in infancy |
OMIM:614862 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction |
ORPHA:36412 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft... |
OMIM:619680 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, Short stature, Maternal diabetes |
ORPHA:2549 |
Joubert Syndrome With Ocular Defect |
|
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Choroid plexus cyst, Patellar hyp... |
ORPHA:1827 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Buratti-Harel Syndrome |
|
Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High... |
OMIM:619314 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... |
OMIM:616028 |
Fryns Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2059 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
Recombinant Chromosome 8 Syndrome |
|
Cerebral atrophy, Secondary microcephaly, Camptodactyly, Clinodactyly of the 5th finger, Joint co... |
OMIM:179613 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, Tachypnea, Dyspnea |
ORPHA:765 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebral white matter morphology, Hip subluxation, Ventriculomegaly, Microcephaly |
OMIM:300957 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Chand Syndrome |
|
Hydroureter, Depressed nasal bridge, Ataxia, Atelectasis, Cleft palate, Bifid tongue |
ORPHA:1401 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:619074 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Ethylmalonic aciduria, Acrocyanosis, Petechiae |
OMIM:602473 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Radioul... |
OMIM:614701 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Short metacarpal, Broad femoral neck, Microcephaly, Metatarsus adductus... |
OMIM:212720 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati... |
ORPHA:42 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Tapered finger, Microcephaly, Talipes equinovarus, Hypop... |
OMIM:617452 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Abnormal per... |
ORPHA:466934 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Growth... |
ORPHA:1596 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Type II lissencephaly, Microcephaly, Hydrocephalus, Diffuse white matte... |
ORPHA:370959 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly |
OMIM:619092 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... |
ORPHA:98915 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea |
OMIM:615157 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Hypertriglyceridemia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Co... |
ORPHA:819 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia |
ORPHA:50945 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Leukoencephalopathy, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small basal gan... |
ORPHA:88639 |
Aicardi-Goutieres Syndrome 1 |
|
Short stature, Inability to walk, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice,... |
OMIM:225750 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Ventriculomegaly, Microcephaly |
OMIM:615502 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short stature, Postnatal growth retardation, Tachypnea, Death in childhood, Pul... |
OMIM:613320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:300958 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:620210 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Short stature, Asthma |
ORPHA:634 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Short stature, Respiratory insufficiency, Restrictive ventilatory defec... |
ORPHA:536471 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity,... |
ORPHA:805 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature |
OMIM:300887 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Atelectasis, Erythema, Anteriorly plac... |
ORPHA:728 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Microcephaly, Short 5th finger, Hypoplasia of the corpus callosum, Acromesomelia, Abnormal perive... |
ORPHA:500159 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, High palate, Wide nasal bridge, Hypoplastic nasal tip |
ORPHA:3304 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Overlapping toe, Microcephaly, Hip dislocation, Elbow flexion contracture, Talip... |
OMIM:617301 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90037 |
Bresek Syndrome |
|
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat... |
OMIM:618150 |
X-Linked Lissencephaly With Abnormal Genitalia |
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Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:452 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum |
OMIM:617809 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation |
ORPHA:2167 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Microcephaly |
ORPHA:64754 |
Basilicata-Akhtar Syndrome |
|
Short palm, Single transverse palmar crease, Short foot, Camptodactyly, Ventriculomegaly, Adducte... |
OMIM:301032 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Growth delay, Intrauterine growth retardation, Short stature, Episodic tachypnea |
ORPHA:2872 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... |
ORPHA:83617 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Overlapping toe, Ventriculomegaly, Camptodactyly |
ORPHA:363444 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Talipes equino... |
OMIM:617260 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Short stature, Pneumothorax, Respiratory insufficiency, Pulmonary arterial hype... |
OMIM:612289 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebral cortical atrophy, V... |
OMIM:617669 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Ataxia, Apnea, Hypospadias, Splen... |
OMIM:252010 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
Cholera |
|
Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Lissencephaly Due To Lis1 Mutation |
|
Thick cerebral cortex, Ventriculomegaly, Progressive microcephaly, Anterior predominant thick cor... |
ORPHA:95232 |
Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:2063 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Fatal Familial Insomnia |
|
Apnea |
OMIM:600072 |
Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Microcephaly, Avascular necrosis of the capital femor... |
ORPHA:502 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Microcephaly, Cerebral atrophy, Short 5th finger, Triphalangeal thumb, Clinodactyly of the 5th fi... |
OMIM:220500 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Microcephaly, Small hand, Narrow palm, Clinodactyly |
ORPHA:1445 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Dicarboxylic aciduria, Oliguria, Respiratory insufficiency, Leth... |
ORPHA:159 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Hyperintensity... |
OMIM:618476 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
OMIM:610954 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydrocephalus, Anen... |
ORPHA:1908 |
Acrorenal-Mandibular Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:200980 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... |
ORPHA:2980 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Peritonitis, Respiratory failure, Pleural effusion, A... |
ORPHA:679 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea |
OMIM:614969 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormality of the kidney, Abnormal stomach morphology, Neonatal ... |
ORPHA:141127 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
Meier-Gorlin Syndrome 7 |
|
Growth delay, Short stature, Pulmonary hypoplasia |
OMIM:617063 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Microcephaly, Ventriculomega... |
ORPHA:2083 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Periventricular leukomalacia, Hip dislocation, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618547 |
Listeriosis |
|
Respiratory distress, Liver abscess, Ataxia, Pneumonia, Miscarriage, Tremor, Jaundice, Peritoniti... |
ORPHA:533 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Single transverse palmar crease, Tapered finger, Microcephaly, Thin corpus callos... |
OMIM:619720 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria, Cleft soft palate, Death in infancy |
ORPHA:99742 |
Otopalatodigital Syndrome Type 2 |
|
Pulmonary hypoplasia |
ORPHA:90652 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Deep philtru... |
ORPHA:647 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Severe short stature, Primary adrenal insufficiency, Growth del... |
ORPHA:2753 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Tracheobronchomalacia, Recurrent uppe... |
OMIM:114290 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hydronephrosis, Respiratory failure |
OMIM:620327 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia |
OMIM:616546 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Monosomy 18P |
|
Microphthalmia, Short stature, Lymphedema |
ORPHA:1598 |
Chromosome 19P13.13 Deletion Syndrome |
|
Ventriculomegaly, Microcephaly |
OMIM:613638 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Ascites, Short stature |
OMIM:602361 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:261344 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Diabetes mellitus, Apnea, Severe intrauterine growth retardation |
OMIM:609069 |
Malan Syndrome |
|
Long fingers, Hypoplasia of the corpus callosum, Ventriculomegaly, Coxa valga |
OMIM:614753 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Talipes equinovarus, Ventriculomegaly |
OMIM:617788 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Pontocerebellar Hypoplasia, Type 2B |
|
Single transverse palmar crease, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Progre... |
OMIM:612389 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Hydrocephalus, Split hand, Absent toe, Absent hand, Porencephal... |
ORPHA:974 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Periventricular leukomalacia, Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Simplifie... |
ORPHA:500150 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Microcephaly, Shortening of all distal phalanges... |
OMIM:616202 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... |
ORPHA:829 |
Glass Syndrome |
|
Short stature, Apnea |
OMIM:612313 |
Orofaciodigital Syndrome Type 6 |
|
Growth delay, Short stature, Apnea, Episodic tachypnea |
ORPHA:2754 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cerebral calcification, Ventriculomegaly, Microcephaly |
ORPHA:1933 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal basal ganglia morphology, Cerebral cortical atrophy, Ventr... |
ORPHA:157941 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Microcephaly, Lissencephaly, Ventriculomegaly |
OMIM:616038 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Xerostomia, Ectodermal dysplasia, Urete... |
OMIM:129900 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Microcephaly, Metatarsus adductus, Hydrocephalus, Polymicrogyria, Leukoe... |
OMIM:607872 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... |
ORPHA:899 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... |
ORPHA:25 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Small bowel diverticula, Recurrent urinary tract infections, Pyloric stenosis, Pneumothorax, Recu... |
ORPHA:90349 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Micropenis, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea, Hypothyroidism |
ORPHA:3282 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Pachygyria, Agenesis of corpus cal... |
OMIM:243310 |
Skraban-Deardorff Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:617616 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus, Partial agenesis of the corpus callosum... |
OMIM:614643 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly |
OMIM:620183 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Short stature, Precocious puberty, Abnormal lung lobation, Growth delay, Pulmon... |
OMIM:270400 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, High, narrow pala... |
OMIM:188400 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulatio... |
OMIM:609757 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea |
ORPHA:36234 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Alg8-Cdg |
|
Leukoencephalopathy, Talipes equinovarus, Hypoplasia of the corpus callosum, Camptodactyly, Cereb... |
ORPHA:79325 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Focal T2 hyperintense basal ganglia lesion, Thin corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:607906 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea |
OMIM:618056 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy |
OMIM:252900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
Developmental And Epileptic Encephalopathy 80 |
|
Tapered finger, Abnormal cerebral white matter morphology, Talipes equinovarus, Triphalangeal thu... |
OMIM:618580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker ma... |
OMIM:220210 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Respiratory insufficiency, Congenital hypothyroidism |
OMIM:617527 |
Prune Belly Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:2970 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Inability to walk, Paralytic ileus,... |
ORPHA:2912 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Hypoxemia, Submucous cleft soft... |
ORPHA:2282 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter morphology, ... |
OMIM:272200 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
Semilobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins... |
ORPHA:93924 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Ventriculomegaly, Cerebral atrophy |
OMIM:616430 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... |
ORPHA:549 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... |
ORPHA:465508 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Arachnodactyly, Coxa valga, Elbow dislocation, Microcephaly, Metaphyseal widening, Hip dislocatio... |
OMIM:620083 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Dyspnea, High, narrow palate, Submucous c... |
ORPHA:2554 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia |
OMIM:273395 |
Galloway-Mowat Syndrome 9 |
|
Microcephaly, Secondary microcephaly, Cerebral cortical atrophy, Thin corpus callosum, Ventriculo... |
OMIM:619603 |
Gillespie Syndrome |
|
Thin corpus callosum, Ventriculomegaly |
OMIM:206700 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Dental crowding, Hypercapnia, Respiratory insufficiency due to ... |
ORPHA:2020 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Short 4th metacarpal, Short foo... |
ORPHA:264200 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Flared metaphysis... |
OMIM:610442 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Microcephaly, Metatarsus adductus, Pachygyria, Cortical dysplasia, Calcaneovalgus... |
OMIM:612513 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... |
OMIM:614576 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Stillbirth, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retarda... |
OMIM:275210 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Gingival overgrowth, Hepatosplenomegaly, Respiratory failure, Stillbi... |
OMIM:259720 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Miscarriage, Postnatal growth retardation, Pulmonary artery stenosis, Growth delay... |
ORPHA:96334 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure,... |
ORPHA:206436 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ataxia, Ethylmalonic aciduria, Petechiae |
ORPHA:51188 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Small hand, Short foot, Hypo... |
OMIM:241410 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Colpocephaly, Hip dysplasia, Hypoplasia of the corpus callosum, Vent... |
ORPHA:261250 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short metatarsal, Ventriculomegaly |
OMIM:613328 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Respiratory failure, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Elevated ci... |
OMIM:305400 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Coxa valga, Microcephaly, Postaxial hand polydactyly, Postaxial foot polydact... |
OMIM:301056 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature, Edema |
ORPHA:2505 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... |
OMIM:616843 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Single transverse palmar ... |
ORPHA:521426 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Ab... |
ORPHA:90796 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery dilatation, Tachypnea |
OMIM:613834 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Short stature, Abnormal lung lobation, Growth delay, Pulmonary hypoplasia, Intrauteri... |
ORPHA:818 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Lethargy, Breathing dysregulation |
OMIM:618232 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Leukodystrophy, Hypomyelinating, 12 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly |
OMIM:616683 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Hypoplasia o... |
OMIM:616449 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Pneumonia, Bronchitis, Respiratory tract infection, Esophagea... |
ORPHA:125 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger, Prominent fingerti... |
OMIM:619188 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... |
OMIM:612292 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Anal stenosis, Cleft soft palate, Ectopic kidney, Carious teeth, C... |
OMIM:117650 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Cleft palate, Renal cyst, Cough, Lethargy, Pulmonary edema |
ORPHA:137675 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:614098 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Microcephaly, Hip dislocation,... |
OMIM:301041 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Tachypnea, Respiratory distress |
ORPHA:79242 |
Dpm1-Cdg |
|
Sandal gap, Cerebral atrophy, Secondary microcephaly, Camptodactyly, Limb undergrowth, Hypoplasia... |
ORPHA:79322 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased ... |
OMIM:612394 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias |
OMIM:250790 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Cerebral cortical atrophy, Ventriculomegaly |
OMIM:619272 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Pulmonary arterial hypertension, Tachypnea |
OMIM:614857 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal... |
ORPHA:73230 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea |
ORPHA:20 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Growth delay, Short stature, Apnea, Hyperventilation |
OMIM:617799 |
Schilbach-Rott Syndrome |
|
Hypospadias, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth,... |
OMIM:164220 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion |
OMIM:306400 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... |
OMIM:230800 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Houge-Janssens Syndrome 3 |
|
Hypoplasia of the corpus callosum, Single transverse palmar crease, Ventriculomegaly, Microcephaly |
OMIM:618354 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Ventriculomegaly |
ORPHA:370997 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism, Pulmonary hypopl... |
ORPHA:798 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... |
ORPHA:90068 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:219730 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature, Pneumonia |
ORPHA:1867 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,... |
OMIM:616538 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Ataxia, Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
Warburg Micro Syndrome 3 |
|
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... |
OMIM:614222 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse,... |
ORPHA:904 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Periventricular leukomalacia, Ventriculomegaly, Microcephaly |
OMIM:618798 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Abnormal cerebral white matter morphology, Talipes equinovarus, Hypoplasia of the... |
OMIM:614501 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Microcephaly, Postaxial foot polydactyly, Agenesi... |
ORPHA:139471 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Short distal phalanx of the 5t... |
OMIM:180860 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Hiatus hernia, Dyspnea, Pulmonary artery stenosis, Pyloric stenosis, Cardio... |
ORPHA:3342 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:613735 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Neuronal loss in basal ganglia, Cerebral atrophy, Basal ganglia gliosis, Focal cortical dysplasia... |
OMIM:604377 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal basal ganglia MRI signal intensity, Hypoplasia of the corpus callosum, Ventriculomegaly,... |
ORPHA:431361 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Short stature |
ORPHA:3191 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Tented upper l... |
ORPHA:273 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
1P31P32 Microdeletion Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:401986 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Palmoplantar cutis laxa, Intrauterine growth retardation, Bladder diverticulum, Prominent nose |
ORPHA:2976 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Pontocerebellar Hypoplasia, Type 2E |
|
Microcephaly, Cerebral atrophy, Progressive microcephaly, Secondary microcephaly, Hypoplasia of t... |
OMIM:615851 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Tachypnea, Cyanosis |
ORPHA:3427 |
Neu-Laxova Syndrome 1 |
|
Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia |
OMIM:256520 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb |
OMIM:239710 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Submucous cleft hard palate, High palate |
OMIM:222765 |
Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Isolated Sedoheptulokinase Deficiency |
|
Hip dysplasia, Subcortical cerebral atrophy, Ventriculomegaly, Steatorrhea |
ORPHA:440713 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Ventriculomegaly |
OMIM:618314 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Short stature, Apnea, Breathing dysregulation, Abnormality of the endocrine syst... |
ORPHA:438213 |
Pallister-Hall Syndrome |
|
Syndactyly, Decreased circulating cortisol level, Mesoaxial foot polydactyly, Toe syndactyly, Dec... |
OMIM:146510 |
Pontocerebellar Hypoplasia, Type 10 |
|
Reduced cerebral white matter volume, Tapered finger, Microcephaly, Simplified gyral pattern, Pro... |
OMIM:615803 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Microcephaly... |
ORPHA:192 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Microcephaly, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplasi... |
ORPHA:2637 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa... |
ORPHA:915 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Short stature |
ORPHA:1834 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Int... |
ORPHA:666 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea |
ORPHA:466722 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Short stature, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension |
ORPHA:800 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Abnormal cerebral white matter morp... |
OMIM:616737 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:404473 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... |
OMIM:181000 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:238769 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, ... |
OMIM:194050 |
Desmosterolosis |
|
Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Metatarsus adductus, Microcepha... |
ORPHA:35107 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
Cadds |
|
Abnormal cerebral white matter morphology, Ventriculomegaly |
ORPHA:369942 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea |
ORPHA:395 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:300896 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal stenosis, Hydrocepha... |
OMIM:619534 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:249000 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Emphysema, Abnormality of ... |
ORPHA:363618 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Periventricular leukomalacia, Cerebral calcification, Microcephaly, Leuko... |
OMIM:620024 |
Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... |
OMIM:615789 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Depressed nasal bridge, Poor wound healing, Recurrent pneumonia, Respiratory insufficiency, Exces... |
OMIM:225400 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia, Polyhydramnios |
OMIM:616920 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Partial agenesis of the... |
OMIM:305450 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Cholestasis, Lym... |
OMIM:615895 |
Kleefstra Syndrome Due To A Point Mutation |
|
Microcephaly, Tapered finger, Abnormal cerebral white matter morphology, Hypoplasia of the corpus... |
ORPHA:261652 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia |
OMIM:618280 |
Peho Syndrome |
|
Tapered finger, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventr... |
ORPHA:2836 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Long hallux, Long toe... |
ORPHA:261537 |
Shashi-Pena Syndrome |
|
Short metacarpal, Reduced cerebral white matter volume, Mild fetal ventriculomegaly, Deep palmar ... |
OMIM:617190 |
Carey-Fineman-Ziter Syndrome |
|
Cerebral calcification, Microcephaly, Aplasia of the pectoralis major muscle, Ulnar deviation of ... |
ORPHA:1358 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Joubert Syndrome 37 |
|
Microphthalmia, Short stature |
OMIM:619185 |
Pettigrew Syndrome |
|
Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcification, Hydroceph... |
OMIM:304340 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Aqueductal steno... |
OMIM:620305 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Basal ganglia gliosis, Cerebral cortica... |
OMIM:614946 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia, Maternal diabetes |
ORPHA:49 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Ventriculomegaly, Microcephaly |
OMIM:615182 |
Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad hallux, Tapered finger, Short thumb, Hip dysplasia, Bilateral talipes equinovarus, Perivent... |
OMIM:620224 |
Native American Myopathy |
|
Inability to walk, Respiratory insufficiency, Cleft palate, Downturned corners of mouth, High pal... |
ORPHA:168572 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Alg12-Cdg |
|
Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long fingers, Short long b... |
ORPHA:79324 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature |
OMIM:147250 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Myasthenia Gravis |
|
Dyspnea, Glycosuria, Acrocyanosis, Dysphagia |
ORPHA:589 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Single transverse palmar crease, Tapered finger, Microcephaly, Broad palm, Cerebral atrophy, Prom... |
OMIM:617804 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal fibula morphology, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Microcephaly, Preaxial hand polydactyly, Enlarged metap... |
ORPHA:508533 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Microcephaly, Short palm, Clinodactyly, Agenesis of corp... |
OMIM:217980 |
3C Syndrome |
|
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Dandy-Walker ma... |
ORPHA:7 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Cortical dysplasia, Bilateral talipes equinovarus, Talipes equinovarus, Camptodacty... |
OMIM:618343 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... |
ORPHA:2751 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Macroglossia, Respiratory failure, Open mouth, Hydronephrosis |
ORPHA:254528 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:3301 |
Fanconi Anemia, Complementation Group B |
|
Absent thumb, Hydrocephalus, Bilateral radial aplasia, Hypoplasia of the corpus callosum, Ventric... |
OMIM:300514 |
Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... |
ORPHA:84064 |
Desmosterolosis |
|
Rhizomelia, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypopla... |
OMIM:602398 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Cerebral hypoplasia, Hyp... |
ORPHA:79351 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Microcephaly |
OMIM:618087 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Microcephaly, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatat... |
OMIM:147920 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Short stature, Apnea, Asthma, Ectopic thyroid, Intrauterine growth retardat... |
ORPHA:3206 |
Tetrasomy 9P |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Pulmonary arterial hypertension |
ORPHA:3310 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Toriello-Carey Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... |
ORPHA:3338 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Wolfram Syndrome |
|
Central apnea, Diabetes mellitus, Respiratory insufficiency, Hypogonadism, Delayed puberty, Male ... |
ORPHA:3463 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Cree Mental Retardation Syndrome |
|
Hypospadias, Cleft soft palate |
OMIM:606851 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency, Dysphagia |
ORPHA:2942 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Hypoplasia of the corpus callo... |
ORPHA:457284 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Rh Deficiency Syndrome |
|
Hypoxemia, Intrauterine growth retardation, Tachypnea, Miscarriage |
ORPHA:71275 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Tip-toe gait, High palate, Attention defi... |
OMIM:618050 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... |
OMIM:300968 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Ataxia, Abnormality of the... |
ORPHA:1764 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Short stature, Apnea |
OMIM:300373 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen... |
ORPHA:781 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Lissen... |
OMIM:617729 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Unilateral renal agenesis, Postnatal growth retardation, Emphysema, ... |
ORPHA:90348 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:77298 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
Shprintzen-Goldberg Syndrome |
|
Apnea |
ORPHA:2462 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Camptodactyly of finger, Microcephaly, 4-5 finger syndactyly, Cortical dys... |
ORPHA:468631 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Tapered finger, Short thumb, Colpocephaly, Hypoplasia of the co... |
ORPHA:477993 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus callosum, Long hallux, Long toe... |
ORPHA:261552 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
Triploidy |
|
Finger syndactyly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:3376 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Microcephaly, Talipes equinovarus, Metatarsus valgus, Agenesis of corpus... |
ORPHA:261236 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Poor wound healing, Bladder diverticulum, High palate, Difficulty walking, Abnorma... |
ORPHA:536545 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Emphysema, Neonatal short-limb ... |
ORPHA:289 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebral cortical atrophy, Talipes equinovarus, Ventriculomegaly, Microcephaly |
OMIM:613744 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Hypospadias, Carious teeth, Velopharyngeal insufficienc... |
OMIM:223370 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Cavum s... |
OMIM:274000 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Long palm, Single transverse palmar crease, Microcephaly, Metatarsus ... |
OMIM:244450 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Restrictive Dermopathy |
|
Congenital adrenal hypoplasia, Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:1662 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Respiratory failure, Cleft palate |
ORPHA:158687 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Disproportionate short-limb short stature, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:93271 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Ventriculomegaly |
ORPHA:289483 |
Pseudo-Torch Syndrome 1 |
|
Cerebral calcification, Microcephaly, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:251290 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Sho... |
ORPHA:1001 |
Cog8-Cdg |
|
Progressive microcephaly, Ventriculomegaly |
ORPHA:95428 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Kbg Syndrome |
|
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
Caribbean Parkinsonism |
|
T2 hypointense basal ganglia, Lewy bodies, Midline brain calcifications, Cerebral cortical atroph... |
ORPHA:97355 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation |
ORPHA:887 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral... |
OMIM:311200 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Recurrent urinary tract infections, Ataxia, Cleft soft palate, Unilateral renal... |
ORPHA:268261 |
Prader-Willi Syndrome |
|
Syndactyly, Decreased response to growth hormone stimulation test, Acromicria, Small hand, Narrow... |
OMIM:176270 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th finger |
ORPHA:397590 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Acute Bilirubin Encephalopathy |
|
Central apnea |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Central apnea |
ORPHA:529808 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Congenital Disorder Of Glycosylation, Type If |
|
Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:609180 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Pachygyria, Ventriculomegaly |
OMIM:618397 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microce... |
OMIM:618820 |
Occipital Horn Syndrome |
|
Hiatus hernia, Ureteral obstruction, Growth delay, Hydronephrosis, Bladder diverticulum, High pal... |
OMIM:304150 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly |
ORPHA:369891 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R... |
OMIM:276700 |
Campomelic Dysplasia |
|
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... |
ORPHA:140 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... |
ORPHA:1005 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum, Bruising susceptibility, Fragile skin |
OMIM:617821 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Shortening of all distal phalanges of the fingers, Broad hallux, Ventriculomegaly, Microcephaly |
OMIM:614749 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2481 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
Apparent Mineralocorticoid Excess |
|
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Decrea... |
ORPHA:320 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Ogden Syndrome |
|
Cerebral atrophy, Broad hallux, Ventriculomegaly |
ORPHA:276432 |
Fraser Syndrome |
|
Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Periventricular leukomalacia, Broad hallux, Overlapping toe, Abnormality of the hand, Microcephal... |
ORPHA:508498 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... |
ORPHA:3255 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Macrogyria, Epiphyseal stippling, Colpoceph... |
OMIM:614866 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger, Camptodactyly |
ORPHA:435938 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hiatus hernia, High, narrow palate, Jaundice, Abnormality of ... |
ORPHA:198 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... |
ORPHA:96147 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... |
OMIM:612541 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Dental crowding, Cleft hard... |
OMIM:300990 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Ventriculomegaly |
ORPHA:96181 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Narrow nasal tip, Narro... |
ORPHA:740 |
Galloway-Mowat Syndrome 1 |
|
Dandy-Walker malformation, Microcephaly, Pachygyria, Cerebral atrophy, Secondary microcephaly, Ta... |
OMIM:251300 |
Fraser Syndrome 1 |
|
Abnormal thymus morphology, Pulmonary hypoplasia |
OMIM:219000 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Choreoacanthocytosis |
|
Caudate atrophy, Abnormal putamen morphology, Lateral ventricle dilatation, Frontal cortical atro... |
ORPHA:2388 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation |
OMIM:603467 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:2510 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Growth delay, Decreased sensitivity to hypoxemia, Glomeru... |
OMIM:223900 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
Marshall-Smith Syndrome |
|
Slender long bone, Bowing of the long bones, Ventriculomegaly |
ORPHA:561 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Megalencephaly, Tapered finger, Microcephaly, Hydrocephalus, Talipes equinovarus, Ventriculomegaly |
OMIM:613603 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder, H... |
ORPHA:98784 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Severe short stature, Decreased response to growth hormone stim... |
OMIM:616835 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Microcephaly, Cerebral atrophy, Short foot, Abnormal cerebral white matter morphology, Hypoplasia... |
OMIM:615471 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Hydrocephalus, Congenital hip dislocation |
OMIM:104350 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Cyanosis, Partial anomalous pulmonary venous return, Renal... |
OMIM:617478 |
Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Microcephaly, Colpocephaly, Clinodactyly, Ventriculomegaly |
OMIM:618460 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Neon... |
OMIM:252160 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:79323 |
Fabry Disease |
|
Short stature, Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency,... |
ORPHA:324 |
D-Bifunctional Protein Deficiency |
|
Cerebral dysmyelination, Corpus callosum atrophy, Cortical dysplasia, Split hand, Hammertoe, Cere... |
OMIM:261515 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Decreased response to growth hormone stimulation test, Microcephaly, 2-3 toe syndactyl... |
ORPHA:488632 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia |
OMIM:612918 |
Gm1-Gangliosidosis, Type Ii |
|
Limb undergrowth, Cerebral atrophy, Ventriculomegaly, Coxa valga |
OMIM:230600 |
Hoyeraal-Hreidarsson Syndrome |
|
Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly |
ORPHA:3322 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Ventriculomegaly |
OMIM:616831 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Short stature, Disproportionate short-limb short stature |
ORPHA:468699 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Hydrocephalus, Colpoceph... |
OMIM:309801 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Hypospadias, Submucous cleft hard palate, Dysdiadochokinesis, Chordee, Compulsi... |
OMIM:618891 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Bladder diverticulum, Cleft soft palate |
OMIM:614557 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Ventriculomegaly |
ORPHA:2031 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach... |
OMIM:619227 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... |
OMIM:611881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Type II l... |
OMIM:613150 |
Keutel Syndrome |
|
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... |
OMIM:245150 |
Seckel Syndrome 9 |
|
Simplified gyral pattern, Talipes equinovarus, Ventriculomegaly, Microcephaly |
OMIM:616777 |
Tatton-Brown-Rahman Syndrome |
|
Widely spaced toes, Short toe, Ventriculomegaly |
ORPHA:404443 |
Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele, Growth delay |
OMIM:614424 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... |
ORPHA:217346 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Holoprosencephaly 14 |
|
Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of t... |
OMIM:619895 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Myhre Syndrome |
|
Thin upper lip vermilion, Ataxia, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory... |
OMIM:139210 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Short femoral neck, Short clavicles, Ventriculomegaly |
OMIM:617159 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Submucous cleft hard palate, Cleft palate, Gi... |
ORPHA:2588 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating parathyroid hormone level |
OMIM:239200 |
Diamond-Blackfan Anemia |
|
Hypospadias, Cleft soft palate, Renal agenesis, Cleft lip, Horseshoe kidney, High palate, Adenoca... |
ORPHA:124 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Submucou... |
ORPHA:2636 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Branchioskeletogenital Syndrome |
|
Penoscrotal hypospadias, Ureteral stenosis, Unilateral cleft palate, Abnormality of the dentition... |
ORPHA:1299 |
Costello Syndrome |
|
Renal insufficiency, Pyloric stenosis, Pneumothorax, Thick lower lip vermilion, Respiratory insuf... |
OMIM:218040 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... |
ORPHA:2658 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Hypospadias, Abnormality of the dentition, Malabsorptio... |
ORPHA:235 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Single transverse palmar crease, Microcephaly, Talipes equinovarus, Thin corpus callosum, Ventric... |
OMIM:619743 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Short ste... |
OMIM:257300 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Retinal telangiectasia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Trach... |
OMIM:620155 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus ... |
ORPHA:75857 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Stillbirth, Cutaneous syndactyly |
OMIM:617667 |
Fumarase Deficiency |
|
Microcephaly, Choroid plexus cyst, Cerebral atrophy, Lissencephaly, Polymicrogyria, Agenesis of c... |
OMIM:606812 |
Sanjad-Sakati Syndrome |
|
Short foot, Small hand, Ventriculomegaly, Microcephaly |
ORPHA:2323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Absent septum pellucidum, Type II lissencephaly, Hydrocephalus, Cort... |
OMIM:615287 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ... |
ORPHA:2780 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... |
ORPHA:30391 |
Meacham Syndrome |
|
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... |
ORPHA:3097 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Arachnodactyly, Megalencephaly, Thick corpus callosum, Large hands, ... |
OMIM:617011 |
Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walk... |
ORPHA:2612 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Childhood Absence Epilepsy |
|
Punding, Urinary incontinence, Attention deficit hyperactivity disorder, Hyperventilation |
ORPHA:64280 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Decreased response to growth hormone stimulation test, Proximal ... |
OMIM:613406 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature |
ORPHA:1806 |
Bilateral Polymicrogyria |
|
4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy... |
ORPHA:268940 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Menkes Disease |
|
Malabsorption, Bladder diverticulum, Spontaneous hematomas, Prolonged neonatal jaundice, Intraute... |
ORPHA:565 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr... |
ORPHA:581 |
Adams-Oliver Syndrome 1 |
|
Periventricular leukomalacia, Toe syndactyly, Microcephaly, Cortical dysplasia, Talipes equinovar... |
OMIM:100300 |
Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Submucous cleft hard palate, Bifid uvula, Renal hypoplasia |
OMIM:617660 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Anteverted nares, Abnormal repetitive mannerisms, Hyperventilation |
OMIM:300672 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Wide mout... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... |
ORPHA:193 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Hydrocephalus, Agenesis of corpus callosum, Palmoplantar cutis laxa, Limited elb... |
OMIM:123790 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Hydranencephaly |
|
Ventriculomegaly, Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Dysgenesis of ... |
ORPHA:2177 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Abnormality of... |
OMIM:617140 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Microcephaly, Polyd... |
ORPHA:464306 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Distal Deletion 6P |
|
Short foot, Talipes equinovarus, Abnormal epiphysis morphology, Short palm, Clinodactyly of the 5... |
ORPHA:96125 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short toe, Hip dislocation, Cerebral atr... |
ORPHA:2308 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Membranoproliferative glomerulonephritis,... |
ORPHA:48435 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Emphysema, Bifid uvula, Cleft s... |
OMIM:619472 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly |
ORPHA:178303 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
ORPHA:35173 |
Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones |
ORPHA:1323 |
Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Widely spaced teeth, Vesicour... |
ORPHA:2152 |
Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Agyria, Type II lissencephaly, Microcephaly, Hydrocephalus, Hypoplasia... |
OMIM:236670 |
Papillorenal Syndrome |
|
Microphthalmia, Short stature, Edema |
OMIM:120330 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Eryt... |
ORPHA:221 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Fra... |
OMIM:618188 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Microcephaly, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... |
OMIM:616749 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rhizomelia, Microcephaly, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, Short toe... |
OMIM:266920 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... |
ORPHA:3380 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... |
OMIM:619297 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Ventriculomegaly, Microcephaly |
OMIM:610651 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Tapered finger, Microcephaly, Slender long bone, Hypoplasia of t... |
ORPHA:444072 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Hypoplasia of the corpus callos... |
OMIM:605627 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... |
OMIM:245600 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Reduced arm span, Hypop... |
ORPHA:1272 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... |
OMIM:611174 |
Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea, Pulmonary edema |
ORPHA:466677 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ... |
ORPHA:286 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Microcephaly, Hypoplastic anterior commissure, Hip dysplasia, Hypoplasia of the corpu... |
OMIM:616975 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Joubert Syndrome 8 |
|
Hyperventilation, Occipital encephalocele, Ataxia, Prolonged neonatal jaundice |
OMIM:612291 |
Holoprosencephaly |
|
Diabetes mellitus, Panhypopituitarism, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs... |
ORPHA:2162 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... |
ORPHA:116 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Cough |
ORPHA:134 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Microcephaly, Hypoplasia of the cor... |
ORPHA:487796 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Periventricular cysts, Subependymal cysts, Increased caudate lacta... |
ORPHA:3008 |
X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... |
OMIM:269150 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Coffin-Lowry Syndrome |
|
Wide nose, Cutis marmorata, Short stature, Thick nasal alae, Anteverted nares, Rectal prolapse, N... |
OMIM:303600 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:2556 |
Distal Deletion 3P |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Ventriculomegaly, Microcephaly |
ORPHA:1620 |
De Sanctis-Cacchione Syndrome |
|
Microcephaly, Basal ganglia calcification, Cerebral atrophy, Bilateral coxa valga, Ventriculomegaly |
OMIM:278800 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Small hand, Short 4th metacarpal |
ORPHA:1787 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Downturned corners of mouth, Micrope... |
OMIM:619321 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... |
OMIM:616734 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Tapered finger, Microcephaly, Short toe, Short foot, Posterior pituitary hypoplasia, Hypoplasia o... |
ORPHA:464311 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature... |
ORPHA:3455 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... |
ORPHA:416 |
Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature |
ORPHA:2092 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Eisenmenger Syndrome |
|
Respiratory distress, Renal insufficiency, Cyanosis, Increased pulmonary vascular resistance, Whe... |
ORPHA:97214 |
Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria |
OMIM:614520 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand polydactyly, P... |
ORPHA:2211 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Abnormal pleura morphology... |
ORPHA:797 |
Pallister-Killian Syndrome |
|
Rhizomelia, Mesomelic/rhizomelic limb shortening, Growth delay, Stillbirth, Apneic episodes in in... |
OMIM:601803 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia |
OMIM:301043 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
OMIM:619418 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... |
ORPHA:794 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal prolapse, Bladder divertic... |
ORPHA:287 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Wolf-Hirschhorn Syndrome |
|
Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux, Microcephaly, ... |
OMIM:194190 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Microceph... |
ORPHA:84 |
Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Polydactyly, Calcification of falx cerebri, Ventriculomegaly |
ORPHA:77301 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Tapered finger, Microcephaly, Small hand, Cerebral atrophy, Short foot, Hypoplas... |
OMIM:309590 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... |
ORPHA:2396 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Microcephaly, Pr... |
OMIM:107480 |
Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Pachygyria, Pol... |
ORPHA:50 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Short stature |
OMIM:601675 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Meier-Gorlin Syndrome 5 |
|
Micropenis, Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Deep philtrum, Submucous cleft ... |
OMIM:619194 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Cerebral atrophy, Clinodactyly, Ventriculomegaly |
OMIM:618164 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Arachnodactyly, Megalencephaly, Diffuse white matter abnormalities, ... |
ORPHA:457359 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Hartsfield Syndrome |
|
Syndactyly, Microcephaly, Gonadotropin deficiency, Ectrodactyly, Agenesis of corpus callosum |
OMIM:615465 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Ataxia, Hyperventilation |
OMIM:614615 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... |
ORPHA:2250 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:227645 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... |
OMIM:309000 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement... |
OMIM:261540 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Microcephaly, Small hand, Genu valgum, Short 5th finger, Cerebra... |
ORPHA:1449 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Tachypnea, Pulmonary edema |
OMIM:220111 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... |
OMIM:259900 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Cleft palate, Respiratory insufficiency, Respiratory failure, Stillbirth, Narrow mou... |
OMIM:304120 |
Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, High palate, Hydronephrosis, Long philtrum |
ORPHA:1340 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd... |
OMIM:616894 |
Rubinstein-Taybi Syndrome 1 |
|
Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Radial deviation... |
OMIM:180849 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly |
ORPHA:2311 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Decreased response to growth ... |
ORPHA:1896 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Decreased response to growth hormone stimulation test, Sandal gap, ... |
ORPHA:506358 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi... |
OMIM:620029 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Intrauterine growth retardation |
ORPHA:280 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... |
OMIM:216340 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Short stature |
OMIM:600901 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Cerebral white matter atrophy, Irregu... |
ORPHA:99646 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Choanal a... |
OMIM:192350 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo... |
ORPHA:261318 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... |
ORPHA:564 |
Momo Syndrome |
|
Bilateral microphthalmos, Short stature |
ORPHA:2563 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Short stature |
OMIM:227650 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Hydroureter, Urethral diverticulum, Pulmonary artery atresia, Hydronephrosis |
OMIM:212093 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Ventriculomegaly, Brachydactyly |
OMIM:300989 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Holoprosencephaly 3 |
|
Ventriculomegaly, Microcephaly |
OMIM:142945 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature, Spina bifida |
OMIM:234100 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Hallux valgus, Congenital hip dislocation, Overlapping toe, Abnormal co... |
ORPHA:480880 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Synostosis involving th... |
ORPHA:466791 |
Degcags Syndrome |
|
Syndactyly, Ventriculomegaly, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyl... |
OMIM:619488 |
Arima Syndrome |
|
Growth delay, Dyspnea, Tachypnea |
OMIM:243910 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature |
OMIM:201180 |
Monosomy 13Q14 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Short stature |
OMIM:308300 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Microcephaly, Metatarsus adductus, Osteopathia striata, Pineal cyst, Hip dysplasia, Hypoplasia of... |
ORPHA:513456 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Hip dysplasia |
OMIM:619426 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Microphthalmia, Syndromic 1 |
|
Growth delay, Pulmonary hypoplasia |
OMIM:309800 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Cornelia De Lange Syndrome |
|
Ventriculomegaly, Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of ... |
ORPHA:199 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Celiac disease, Velopharyngeal insufficiency, Submuco... |
OMIM:619325 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... |
OMIM:133540 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
OMIM:620186 |
Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Microcephaly |
OMIM:210900 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
OMIM:256040 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... |
OMIM:610168 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation |
OMIM:620005 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... |
ORPHA:96123 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Microcephaly, 2-3 toe syndacty... |
ORPHA:363611 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Acute Liver Failure |
|
Acute kidney injury, Ataxia, Jaundice, Abnormal respiratory system physiology, Agitation, Hypocap... |
ORPHA:90062 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Delayed puberty, Micro... |
ORPHA:138 |
Craniofacial Microsomia 1 |
|
Pulmonary hypoplasia |
OMIM:164210 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610829 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Microcephaly, Hydrocephalus, Short toe, Aplasia/Hypoplasi... |
ORPHA:709 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
Microgastria-Limb Reduction Defect Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:2538 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation |
ORPHA:33364 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Short stature |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Short stature |
OMIM:227646 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... |
ORPHA:51608 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc... |
OMIM:300166 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Proportionate short stature |
ORPHA:2108 |
Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:618971 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Pa... |
OMIM:253280 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Recurrent respiratory infections, Submucous cleft hard palate, Bifid uvula |
ORPHA:3047 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd... |
OMIM:613610 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Hypospadias, Abnormalit... |
OMIM:235730 |
Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
Mend Syndrome |
|
Microphthalmia, Short stature |
ORPHA:401973 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation |
OMIM:236680 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Mild postnatal growth retardation |
ORPHA:90324 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Cockayne Syndrome |
|
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia |
ORPHA:191 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... |
ORPHA:2907 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Short lower limbs |
ORPHA:1556 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas... |
OMIM:150230 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... |
ORPHA:508488 |
African Trypanosomiasis |
|
Miscarriage, Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnorm... |
ORPHA:3385 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... |
OMIM:214800 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Renpenning Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:309500 |
Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Camptodactyly of finger |
ORPHA:2136 |
Pallister-Hall Syndrome |
|
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation |
ORPHA:672 |
Holoprosencephaly 1 |
|
Microphthalmia, Short stature |
OMIM:236100 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing... |
ORPHA:744 |
Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly |
ORPHA:1519 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... |
OMIM:113620 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Microcephaly, Long fingers, Cutaneous syndactyly, Toe clinodactyly |
OMIM:620330 |
Townes-Brocks Syndrome |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |