Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Microcephaly, Blepharophimosis,... |
ORPHA:2570 |
Aminopterin/Methotrexate Embryofetopathy |
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Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha... |
ORPHA:1908 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Microcephaly, Micrognathia, Dyspnea, Respiratory failure, Proptosis, Mandib... |
ORPHA:1832 |
Congenital Herpes Simplex Virus Infection |
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Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephaly 5, Primary, Autosomal Recessive |
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Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern,... |
OMIM:608716 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Short stature, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial agenesis of the corpus... |
OMIM:616171 |
Asbestos Intoxication |
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Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Treacher Collins Syndrome 4 |
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Respiratory failure requiring assisted ventilation, Micrognathia, Microcephaly, Lower eyelid colo... |
OMIM:618939 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Ptosis, Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Hypertelorism, Microceph... |
OMIM:615834 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Short stature, Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy... |
OMIM:618492 |
Faundes-Banka Syndrome |
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Epicanthus, Hypertelorism, Micrognathia, Cryptorchidism, Hypoplasia of the lower eyelids, Deeply ... |
OMIM:619376 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Microretrognathia, 2-3 toe syndactyly, Cutaneous syndactyly, Narrow palpebral fissure, Hypoplasia... |
OMIM:236500 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Thrombocytopenia 2 |
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Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Meconium Aspiration Syndrome |
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Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Tetralogy Of Fallot |
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Cryptorchidism, Proptosis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Brach... |
ORPHA:3303 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Neonatal respiratory distress, Severe short stature, Cerebral atrophy, Growth delay, Respiratory ... |
OMIM:619057 |
Microhydranencephaly |
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Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Proptosis, Cerebellar hyp... |
OMIM:605013 |
Glutathione Peroxidase Deficiency |
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Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Rocker bottom foot, Microcephaly, Respiratory insufficiency due to muscle weakness, Cryptorchidis... |
OMIM:611890 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Sparse eyebrow, Hypoplas... |
OMIM:167730 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Microcephaly, Micrognathia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
Ciliary Dyskinesia, Primary, 21 |
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Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Richieri-Costa/Guion-Almeida Syndrome |
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Mandibular prognathia, Short stature, Microcephaly, Abnormal digit morphology, Hypotelorism, Deep... |
OMIM:268850 |
Meckel Syndrome, Type 4 |
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Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... |
OMIM:611134 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Optic nerve hypoplasia, Hypoplasia of eyelid, Microcephaly, Hydrocephalus, Genu va... |
OMIM:619321 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
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Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ... |
OMIM:611722 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Postaxial polydactyly, Postaxia... |
OMIM:614175 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Distal Deletion 13Q |
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Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Microcephaly, Hypertelorism, Anenc... |
ORPHA:1590 |
Pontocerebellar Hypoplasia Type 10 |
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Highly arched eyebrow, Simplified gyral pattern, Growth delay, Proptosis, Long eyelashes, Abnorma... |
ORPHA:411493 |
Neu-Laxova Syndrome 2 |
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Ablepharon, Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Hy... |
OMIM:616038 |
Short-Rib Thoracic Dysplasia 12 |
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Natal tooth, Epicanthus, Hypertelorism, Bowing of the legs, Atelectasis, Hydrocephalus, Short toe... |
OMIM:269860 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Deeply set eye, Advanced eruption of teeth, Distally placed thumb, Agenesis of corp... |
OMIM:619148 |
Acute Interstitial Pneumonia |
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Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Hypertelorism, Microcephaly, Micrognathia, Upper eyelid colob... |
ORPHA:398156 |
Cherubism |
|
Broad jaw, Proptosis, Upper airway obstruction, Abnormal mandible morphology |
ORPHA:184 |
Hydrolethalus Syndrome 2 |
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Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,... |
OMIM:614120 |
Pontocerebellar Hypoplasia, Type 1C |
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Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Hypoplasia of the c... |
OMIM:616081 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Short stature, Proptosis, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Intraut... |
ORPHA:2370 |
Essential Fructosuria |
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Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Meckel Syndrome, Type 2 |
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Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Epicanthus, Short stature, Highly arched eyebrow, Hypertelorism, Microcephaly, Cryptorchidism, Bi... |
ORPHA:352490 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Syndactyly, Hypertelorism, Upper eyelid coloboma, Proptosis, Clinodact... |
OMIM:619736 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Ablepharon, Short metacarpal, Hypoplasia of eyelid, Toe syndactyly, Hypertelorism... |
OMIM:200110 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Cerebral calcification, Short stature, Spina bif... |
ORPHA:1393 |
Hydrolethalus |
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Absent septum pellucidum, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Postaxial hand... |
ORPHA:2189 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Hypoplasia of the corpus ca... |
OMIM:164180 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Short stature, Hypertelorism, Blepharophimosis, Upper eyelid coloboma... |
ORPHA:1791 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Camptodactyly of finger, Blepharophimosis, Microcephaly, Atelectasis, Abnormal finge... |
ORPHA:896 |
Anencephaly 2 |
|
Anencephaly, Short palpebral fissure |
OMIM:619452 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Eyelid coloboma... |
ORPHA:1784 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Short stature, Microcephaly, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Prop... |
ORPHA:85172 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Short stature, Hypertelorism, Micrognathia, Lower eyelid coloboma, 2-3 toe... |
OMIM:608572 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Trisomy 18 |
|
Microretrognathia, Epicanthus, Short stature, Camptodactyly of finger, Spina bifida, Microcephaly... |
ORPHA:3380 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Hypertelorism, Myelomeningocele, Hydrocephalus, Respiratory insufficiency, Proptos... |
ORPHA:1914 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Filippi Syndrome |
|
Microcephaly, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus... |
OMIM:256520 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Gro... |
OMIM:245400 |
Schisis Association |
|
Encephalocele, Micromelia, Spina bifida, Microcephaly, Anencephaly |
ORPHA:63862 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... |
ORPHA:2902 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency... |
ORPHA:93262 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Retrognathia, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Hyp... |
OMIM:615330 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Retrognathia, ... |
OMIM:618804 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Short stature, Microcephaly, Micrognathia, Hypoplasia of the... |
OMIM:616462 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb short... |
ORPHA:2839 |
Cousin Syndrome |
|
Micrognathia, Deeply set eye, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelia,... |
OMIM:260660 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cutaneous ... |
OMIM:612961 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Pontocerebellar Hypoplasia, Type 3 |
|
Short stature, Reduced cerebral white matter volume, Hypoplasia of the pons, Cerebral atrophy, Hy... |
OMIM:608027 |
Thanatophoric Dysplasia |
|
Micromelia, Hydrocephalus, Respiratory insufficiency, Proptosis, Pulmonary hypoplasia, Disproport... |
ORPHA:2655 |
Frias Syndrome |
|
Short stature, Hypertelorism, Micrognathia, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Hypertelorism, Deviation of finger, Eyelid coloboma, Blepharophimosis |
ORPHA:1104 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ... |
OMIM:225753 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Severe short stature, Hypertelorism, Tapered finger, Res... |
OMIM:313420 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of th... |
ORPHA:1194 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Microcephaly, Postnatal growth retardation, Resp... |
OMIM:609981 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency |
OMIM:618328 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature, Hypoplasia of the capital femoral epiphysis |
OMIM:600561 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Proptosis, Hypertelorism |
ORPHA:35099 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Short stature, Hypertelorism, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, ... |
OMIM:109120 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max... |
ORPHA:1540 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Brachydactyly, Microcephaly, Hypertelo... |
OMIM:147791 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Cerebral atrophy, Ptosis |
OMIM:618637 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypertelorism, Micrognathia, Cryptorchidism, Hydrocephalus, Proptosis, Long eyelashes, Hypoplasia... |
OMIM:618577 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Proptosis, Short stature, Short distal phalanx of finger |
ORPHA:2776 |
Hyperekplexia 4 |
|
Cerebral atrophy, Respiratory failure, Talipes equinovarus, Camptodactyly, Umbilical hernia, Addu... |
OMIM:618011 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Cryptorchidism, Preaxial hand polydactyly, Anencephal... |
ORPHA:887 |
Frontoocular Syndrome |
|
Epicanthus, Micrognathia, Hypotelorism, Upslanted palpebral fissure, Proptosis, Blepharophimosis,... |
OMIM:605321 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Absent septum pellucidum, Blepharophimosis, Growth delay, Eyelid colobom... |
ORPHA:3339 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Short distal phalanx of finger, Microcephaly |
OMIM:601355 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges of the toes, Cryptor... |
ORPHA:1647 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Epicanthus inversus, Hypotelorism, Agenesis of corpus call... |
OMIM:249000 |
Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Ectropion of lo... |
ORPHA:246 |
Hypophosphatasia, Childhood |
|
Carious teeth, Proptosis, Short stature, Bowing of the legs |
OMIM:241510 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Ank... |
OMIM:263650 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Hypertelorism... |
ORPHA:2211 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormal eyelid morphology, Hypertelorism, Hypoplasia of the maxilla, Upper eyelid... |
ORPHA:2095 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Respiratory insufficiency, Respirator... |
ORPHA:370968 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Diprosopus |
|
Anencephaly |
ORPHA:1681 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Bilateral ptosis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Microcephaly, Micrognathia, 2-3 toe syndactyly, Respiratory insufficiency, Hand clenc... |
OMIM:618186 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Microcephaly, Micr... |
ORPHA:2707 |
Muenke Syndrome |
|
Brachydactyly, Broad hallux, Malar flattening, Hypertelorism, Capitate-hamate fusion, Dental malo... |
OMIM:602849 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Proptosis |
OMIM:187500 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypertelo... |
OMIM:617201 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Short stature, Microcephaly, Partial agenesis of the corpus callosum, Proptosis, Intrauterine gro... |
OMIM:618346 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Short foot, Eyelid col... |
OMIM:607597 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... |
OMIM:300219 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Microcephaly, Split hand, Respiratory insufficiency, Cerebral atrophy, Respiratory failure... |
OMIM:610127 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Hypertelorism, Dental malocclusion, Large hands, Eyelid co... |
OMIM:157980 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Crouzon Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Proptosis, Co... |
ORPHA:207 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Short stature, Hypertelorism, Dental malocclusion, Femoral... |
ORPHA:2563 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Micromelia, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypop... |
ORPHA:93274 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre... |
ORPHA:254875 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Microcephaly, Split hand, Neuronal loss in the cerebral cor... |
ORPHA:168486 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Miscarriage, Micromelia, Microcephaly, Bowing of the legs, C... |
ORPHA:1865 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Cerebellar vermis hypoplasia, Femur fracture, Ulnar deviation of the hand, Microgn... |
OMIM:618291 |
Jacobsen Syndrome |
|
Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Long hallux, Death in infancy, Broad ha... |
ORPHA:2308 |
Shashi-Pena Syndrome |
|
Epicanthus, Short metacarpal, Reduced cerebral white matter volume, Hypertelorism, Highly arched ... |
OMIM:617190 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Proptosis, Short ... |
OMIM:618821 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Epicanthus, Brachydactyly, Sparse eyelashes, Camptodactyly of finger, Hypert... |
ORPHA:306542 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri... |
OMIM:616367 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Hypoplasia of the zygomatic bone, Malar flattening, Downslan... |
OMIM:248390 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Bowing of the long bones, Short stature, ... |
ORPHA:2050 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Death in infancy, Proptosis, Short finger, Neonatal death, Ectropion |
OMIM:242500 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Microretrognathia, Hypoplastic facial bones, Proptosis, Intrauterine growth... |
OMIM:619793 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Ptosis, Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Proptosis, Intra... |
ORPHA:1323 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Ulnar deviation of the hand, Hypertelorism, Microcephaly, Micrognathia, ... |
OMIM:263210 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Deeply set eye, Contracture of the proximal interphalangeal joint of the... |
OMIM:615485 |
Holoprosencephaly 11 |
|
Microcephaly, Synophrys, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum,... |
OMIM:614226 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Micromelia, Abnormal eyelid morphology, Micrognathia, Pterygium, Pachygyr... |
ORPHA:2671 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Microcephaly, Bilateral cryptorchidism, Micrognathia, Hydrocep... |
ORPHA:2409 |
Desbuquois Syndrome |
|
Severe short stature, Camptodactyly of finger, Coxa valga, Abnormal eyelash morphology, Small han... |
ORPHA:1425 |
Kleeblattschaedel |
|
Hydrocephalus, Proptosis |
OMIM:148800 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Short stature, Highly arched eyebrow, Proptosis, Long eyelashes, Clino... |
OMIM:619451 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hallux valgus, Short stature, Hypertelori... |
OMIM:617180 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Hypertelorism |
OMIM:613456 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Microcephaly, Respiratory failure, Intrauterine growth retardation, Polymicrogyria |
OMIM:610678 |
Developmental And Epileptic Encephalopathy 48 |
|
Microcephaly, Cerebral atrophy, Proptosis, Long eyelashes, Hypoplasia of the corpus callosum, Lon... |
OMIM:617276 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Proptosis, Short femora... |
ORPHA:157965 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Short stature, Hypertelorism, Microcephaly, Tapered finger, Short 1st metacarpal, Co... |
ORPHA:949 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea, Thin corpus callosum |
OMIM:616277 |
Frontofacionasal Dysplasia |
|
Telecanthus, Hypertelorism, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebra... |
OMIM:229400 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal... |
OMIM:166300 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Abnormality of the maxillary sinus, Eyelid coloboma, ... |
ORPHA:141099 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Hypertelorism, Metaphyseal w... |
OMIM:618961 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Epicanthus, Brachydactyly, Hypertelorism, Hypoplasia of the maxilla, Postaxi... |
OMIM:136760 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Microcephaly, Hypoplasia of... |
OMIM:620157 |
Tyshchenko Syndrome |
|
Short stature, Cryptorchidism, Proptosis, Hypoplasia of the corpus callosum, Intrauterine growth ... |
OMIM:615102 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Marbach-Rustad Progeroid Syndrome |
|
Short stature, Femur fracture, Delayed eruption of primary teeth, Microcephaly, Micrognathia, Gro... |
OMIM:619322 |
Bohring-Opitz Syndrome |
|
Micrognathia, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dandy-Walker malformation... |
OMIM:605039 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g... |
OMIM:312170 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Atelect... |
OMIM:244400 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Hypertelorism, Absent eyelas... |
ORPHA:861 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Postaxial hand polydacty... |
OMIM:612284 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Cryptorchidism, S... |
OMIM:263750 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Rhizomelia, Cerebral dysmyelin... |
ORPHA:763 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, ... |
OMIM:608154 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Sh... |
OMIM:614078 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Micrognathia, Rhizomelia, Short stature, Hypertelorism, Cryptorchid... |
OMIM:611209 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Hypertelorism, Blepharophimosis, Long fingers, Hypotelorism, Upslanted palpebral fiss... |
OMIM:613174 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Tapered finger, Micrognathia, Partial agenesis of the corpus callosum, Synophrys, ... |
OMIM:620250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth... |
OMIM:604320 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Desbuquois Dysplasia 2 |
|
Neonatal respiratory distress, Severe short stature, Epicanthus, Short metacarpal, Monkey wrench ... |
OMIM:615777 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces... |
ORPHA:536467 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Short stature, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, G... |
OMIM:604804 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Microcephaly, Cryptorchidism, Growth delay, Short foot, Proptosis, S... |
ORPHA:363659 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Toe clinodactyly, Sandal gap, Microcephaly, Aplasia/Hypoplasia of ... |
ORPHA:254346 |
Trisomy 12P |
|
Epicanthus, Short stature, Hypertelorism, Micrognathia, Large hands, Proptosis, Clinodactyly of t... |
ORPHA:1699 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Sandal gap, Hypertelorism, Micrognathia, Atelectasis, Recurrent pneumonia, Grow... |
OMIM:613177 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hyd... |
OMIM:613001 |
Keipert Syndrome |
|
Broad hallux phalanx, Epicanthus, Short stature, Short hallux, Hypertelorism, Aplasia/Hypoplasia ... |
ORPHA:2662 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Preaxial hand polydactyly, Po... |
OMIM:236680 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, B... |
ORPHA:439822 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Short stature, Hypertelorism, Hypoplasia of the maxilla, Malar ... |
ORPHA:261295 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Short stature, Broad hallux, Hypertelorism, Microcephaly, Proptosis, Hand polydactyly... |
OMIM:239710 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Prominent fingertip pads, Clinodactyl... |
OMIM:615873 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Micromelia, Postaxial polydactyly, Hydrocephalus, Anencephaly, Prea... |
OMIM:616546 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Synophrys, Narrow palpebral fissure, Peri... |
OMIM:618302 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Microcephaly, Tapered finger, Cryptorchidism, Hypoplasia ... |
ORPHA:85279 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Hypo... |
ORPHA:468631 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Micrognathia, Microcephaly, Malar prominence, Proptosis, Ptosis |
ORPHA:2522 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Microcephaly, Abnormal cerebral white matter morphology, Proptosis, Talipes equinovarus, Hypoplas... |
OMIM:617481 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Highly arched eyebrow, Hype... |
ORPHA:1299 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the... |
OMIM:614900 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Hypertelorism, Sparse or absent eyelashes, Ap... |
ORPHA:1231 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen... |
OMIM:154400 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Hypertelorism, Tapered finger, Micrognathia, Growth delay, Abnormal cerebral wh... |
OMIM:618580 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of the maxilla, Upslanted palpebra... |
ORPHA:93950 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Craniofaci... |
ORPHA:2484 |
Congenital Myopathy 22A, Classic |
|
Micrognathia, Bilateral ptosis, Synophrys, Respiratory insufficiency, Deeply set eye, Normal pres... |
OMIM:620351 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, R... |
ORPHA:333 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Abnormal tibia morphology, Anencephaly, Split hand, Aplasia/Hypopla... |
ORPHA:1335 |
Developmental And Epileptic Encephalopathy 75 |
|
Hypertelorism, Upslanted palpebral fissure, Proptosis, Secondary microcephaly, Hypoplasia of the ... |
OMIM:618437 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Death in infancy, Telecanthus, Severe short stature, Syndactyly, Brachydactyly... |
OMIM:615789 |
Pontocerebellar Hypoplasia Type 1 |
|
Hypoplasia of the pons, Congenital laryngeal stridor, Thin corpus callosum, Respiratory failure, ... |
ORPHA:2254 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Severe short stature, Hyperplasia of the femoral trochant... |
OMIM:156530 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Short stature, Hypertelorism, Tapered finger, Cryptorchidism, Hypote... |
OMIM:619435 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Abnormal lung lobation, Short stature, Arachnodactyly, ... |
ORPHA:567 |
Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, Cavum septum pellucidum, Ulnar deviation of the hand or of fingers of the hand, Abs... |
OMIM:208150 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Lacrimal duct atresia, Ulnar d... |
ORPHA:1529 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Subcortical band heterotopia, Upslanted palp... |
OMIM:618737 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Arachnodactyly, Dyspnea, Resp... |
ORPHA:2759 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal widenin... |
ORPHA:440354 |
Muenke Syndrome |
|
Tarsal synostosis, Hypertelorism, Hydrocephalus, Short foot, Proptosis, Short palm, Carpal synost... |
ORPHA:53271 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Atelectasis, Respiratory insufficien... |
ORPHA:258 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Ogden Syndrome |
|
Microretrognathia, Broad hallux, Postnatal growth retardation, Cryptorchidism, Pulmonary artery s... |
ORPHA:276432 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Abnormal cortical gyration, Respiratory failure |
OMIM:616867 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Respiratory failure, Increased laxity of fingers, Slender finger, Adducte... |
ORPHA:75840 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal periventricular wh... |
OMIM:615838 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Umbilical hernia, Proptosis |
OMIM:606893 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephal... |
ORPHA:564 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Hypertelorism, Bilateral cryptorchidism, ... |
OMIM:617746 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Eyelid coloboma, Holoprosencephaly, Clinodactyly ... |
ORPHA:138 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Death in infancy, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Hype... |
ORPHA:2008 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hypoplas... |
ORPHA:397973 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Hypertelorism, Microcephaly, Micrognathia, Anencepha... |
ORPHA:96176 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Microcephaly, Respiratory insufficiency due to muscle weakness, D... |
ORPHA:352447 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Short stature, Broad hallux, Micromelia, Hypertelorism, Postnatal growth ... |
OMIM:614800 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Epicanthus, Short stature, Camptodactyly of finger,... |
ORPHA:915 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Atelectasis, Deeply set eye, Cough |
ORPHA:2314 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Short stature, Proptosis, Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta,... |
ORPHA:1185 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Donnai-Barrow Syndrome |
|
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Proptosis, Umbilical hernia, Downslante... |
ORPHA:2143 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Resp... |
ORPHA:158687 |
Cenani-Lenz Syndrome |
|
Ptosis, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphol... |
ORPHA:3258 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Epicanthus, Overlapping toe, Postnatal growth retardation, Large placenta, Retrognathia... |
ORPHA:254528 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Telecanthus, Overlapping toe, Tapered finger, Respiratory tract infection,... |
OMIM:618975 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Cerebral calcification, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1798 |
Raine Syndrome |
|
Mandibular prognathia, Death in infancy, Bowing of the long bones, Cerebral calcification, Short ... |
OMIM:259775 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,... |
ORPHA:2215 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Hypertelorism, Postnatal growth retard... |
ORPHA:251061 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Synophrys, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, F... |
ORPHA:251014 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Epicanthus, Highly arched eyebrow, Hypertelorism, Tapered finger, Abnormal limb bo... |
ORPHA:261311 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Pontocerebellar Hypoplasia, Type 10 |
|
Reduced cerebral white matter volume, Microcephaly, Highly arched eyebrow, Cryptorchidism, Synoph... |
OMIM:615803 |
Leigh Syndrome |
|
Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity, Abnorma... |
OMIM:256000 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger,... |
ORPHA:177907 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Short stature, Hypertelorism, Postnatal growth retardation, Hydrocephalus, Pro... |
OMIM:616294 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Bowing of the long bones, Short stature, Hypertelori... |
ORPHA:1225 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the maxilla, Patellar ap... |
OMIM:613804 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... |
OMIM:123150 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Hypertelorism |
ORPHA:171433 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, Clinodactyly of the 5... |
ORPHA:96148 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Hypertelorism, Microcephaly, Hypoplasia of the brainstem, Proptosis, Hypoplasia of th... |
OMIM:618354 |
Mycophenolate Mofetil Embryopathy |
|
Hypertelorism, Micrognathia, Hydrocephalus, Eyelid coloboma, Foot polydactyly, Short palm, Trache... |
ORPHA:268249 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Re... |
OMIM:617895 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Marshall Syndrome |
|
Cerebral calcification, Short stature, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Micrognat... |
ORPHA:560 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Hypertelorism, Sparse eyebrow, Micrognathia, ... |
ORPHA:496641 |
Saul-Wilson Syndrome |
|
Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa valga, Postnatal growth... |
OMIM:618150 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Proptosis, Hypertelorism |
OMIM:612247 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hydrocephalus, Split hand, Respiratory insuffi... |
ORPHA:1860 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re... |
OMIM:276950 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, R... |
OMIM:108720 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypertelorism, Respiratory tract infection, Tapered finger, Diffuse white matter abnormalities, L... |
OMIM:218000 |
Fraser Syndrome 3 |
|
Micrognathia, Short toe, Hydrocephalus, Abnormal lung lobation, Cutaneous syndactyly, Stillbirth,... |
OMIM:617667 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Respiratory failure, Cerebellar hypoplasia, Intrauterine growth retardation, Infe... |
OMIM:620327 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Short 3rd toe, Tapered finger, Upslanted palpebral fissure, Deeply set eye, Proptosis, Short 4th toe |
OMIM:618707 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Malar flattening, Hypertelorism, Micrognathia, Cryptorchid... |
ORPHA:2789 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Toe syndactyly, Short stature, Microcephaly, Bilateral camptodactyly, Growth delay, Upslanted pal... |
OMIM:619234 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Hypertelorism, Micrognathia, Abnormal ossification involvin... |
ORPHA:1190 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, Partial duplication of... |
OMIM:616331 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Telecanthus, Bowing of the long bones, Apnea, Arachnodactyly, Campto... |
ORPHA:2462 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Prolidase Deficiency |
|
Hypertelorism, Micrognathia, Asthma, Recurrent pneumonia, Proptosis, Chronic lung disease, Ptosis |
OMIM:170100 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Long fingers, Hydrocephalus, Deeply set ... |
OMIM:616914 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Hypertelorism, Microcephaly, Abnormal eyelash morphology, Sparse... |
ORPHA:2399 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hypertelorism, Postnatal growth retardation, Micrognathia, Metaphyseal widening, Triangular shape... |
ORPHA:73230 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Proptosis, Shallow orbit... |
OMIM:112240 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Ptosis, Restrictive ventilatory defect, Respiratory failure, E... |
ORPHA:98913 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Overlapping toe, Microcephaly, Respiratory failure, Long eyelashes, Talipes equinovarus, H... |
OMIM:617301 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Dumbbell-shaped long bone, Disproportionate short-trunk short s... |
OMIM:156550 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Aspiration... |
OMIM:602535 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Proptosis, Respiratory insufficiency |
ORPHA:1310 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Microcephaly, Postnatal growth retardation, Hype... |
OMIM:300966 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Hypertelorism, Upslanted palpebral fissure, Respiratory failure, Epicanthus inv... |
OMIM:614862 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Arachnodactyly, Dislocated radial head, Microcephaly, Hypertelorism, Cryptorchidism,... |
OMIM:182212 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Megalencephaly, Hydrocepha... |
OMIM:616482 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb |
OMIM:619334 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebral white matter atrophy, Myelopathy, Cerebral edema, Leukoencephalopathy, Cervical myelopat... |
OMIM:617186 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus, Proptosis |
ORPHA:2086 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology |
ORPHA:70472 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Proptosis |
ORPHA:90653 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Absent eyelashes, Hypoplasia... |
ORPHA:920 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Camptodactyly of finger, Micrognathia, Proptosis, Metacarpal osteolysis, Carpal oste... |
ORPHA:2774 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Malar flattening, Hypertelorism, Cryptorchidism, Hydrocephalus, Proptosis, ... |
ORPHA:1555 |
Pediatric-Onset Graves Disease |
|
Abnormal eyelid morphology, Microcephaly, Neonatal asphyxia, Proptosis, Intrauterine growth retar... |
ORPHA:525731 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Microcephaly, Abnormal cerebral white matter morphology, Respiratory failure, Restrictive ventila... |
OMIM:606612 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short stature, Large tarsal bones, Micrognathia, Recurrent pneumonia, Flared metaphysis, Prominen... |
OMIM:215150 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Short stature, Broad hallux, Sandal gap, Hypertelorism, Micrognathia, Proptosis, Long eyelashes, ... |
OMIM:618529 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short stature, Hypertelorism, C... |
OMIM:139210 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Aplasia/Hypoplasia of the thumb, Abnormal cortical gyration, Micro... |
OMIM:219000 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Fifth finger... |
OMIM:257850 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epicanthus, Growth delay, Eyelid coloboma, Proptosis, Limbal de... |
OMIM:600268 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, Death in ch... |
OMIM:614922 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Retinal hamartoma, Dyspnea, Hydrocephalus, Pneumothorax, Atelec... |
ORPHA:538 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Eyelid coloboma, Shallow orbits, Hyperplasia of the maxilla, Syndactyly, Hypoplasia... |
OMIM:268300 |
Chops Syndrome |
|
Thick eyebrow, Short stature, Microcephaly, Hypertelorism, Cryptorchidism, Synophrys, Anomalous p... |
OMIM:616368 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hype... |
ORPHA:93259 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Microcephaly, Metatarsus adductus, Hypoplasia of the maxilla, Asthma, R... |
ORPHA:293939 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Recurrent respiratory infections, Short stature, Hypertelorism, Reduced forced exp... |
OMIM:613385 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Short stature, Hypertelorism, Hypoplasia of the maxilla, Simplified gyral pattern,... |
OMIM:614261 |
Zygomycosis |
|
Ptosis, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious ... |
ORPHA:73263 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... |
OMIM:156510 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Respiratory failure, Limb undergrowth, Abnormal metap... |
ORPHA:1861 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Conjun... |
OMIM:123500 |
Fibrochondrogenesis |
|
Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Respiratory insufficiency, Abn... |
ORPHA:2021 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Campomelic Dysplasia |
|
Bowing of the long bones, Short stature, Hypertelorism, Micrognathia, Respiratory insufficiency, ... |
ORPHA:140 |
Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis, Epistaxis |
ORPHA:289596 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Hypertelorism |
ORPHA:2717 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Death in infancy, Recurrent respiratory infections, Delayed eruption of te... |
ORPHA:534 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos, Hypertelorism |
OMIM:248450 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Epicanthus, Telecanthus, Short stature, Palpebral edema... |
OMIM:181270 |
Apert Syndrome |
|
Mandibular prognathia, Cutaneous finger syndactyly, Shallow orbits, Broad distal phalanx of the t... |
OMIM:101200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ... |
OMIM:210710 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Respiratory failure, Neonatal d... |
OMIM:605711 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Mandibular prognathia, Bilateral cryptorchidism, Deeply set eye, Conjunctiv... |
OMIM:616268 |
Hennekam-Beemer Syndrome |
|
Short stature, Pneumonia, Camptodactyly of finger, Microcephaly, Micrognathia, Respiratory insuff... |
ORPHA:2135 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal dia... |
ORPHA:85184 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Short stature, Apnea, Microcephaly, Hypertelorism, Micrognathia... |
ORPHA:97297 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Hypertelorism, Dyspnea, Hypoplasia of the brainste... |
OMIM:615636 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Micromelia, Micrognathia, Dyspnea, Hypoplasia of the ... |
ORPHA:3015 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Microcephaly, Cryptorchidism, Cerebral atrophy, Death in childhood, Respiratory fa... |
OMIM:619847 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Hypertelorism, Microcephaly, Radial club hand, Proptosis, Holo... |
ORPHA:2165 |
Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Epicanthus, Brachydactyly, Camptodactyly of finger, Hypertelo... |
ORPHA:391474 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Cutan... |
OMIM:601390 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Epicanthus, Short stature, Hypertelorism, Dyspnea, Lower eyelid edema, Larg... |
ORPHA:363705 |
Isolated Arrhinia |
|
Respiratory distress, Eyelid coloboma, Hypoplasia of the nasal bone, Hypertelorism |
ORPHA:1134 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Aplasia/Hyp... |
ORPHA:818 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Synophrys, Neonatal death, Int... |
OMIM:612289 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Hyperextensibility of the finger joints, Short stature, Hypertelorism... |
OMIM:115150 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Abnormal lung lobation, Eyelid coloboma, Hand polydactyly, Talipes equ... |
OMIM:217100 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Epicanthus, Telecanthus, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, ... |
OMIM:616894 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Death in infancy, Finge... |
ORPHA:1507 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Telecanthus, Epicanthus, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
ORPHA:79113 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Microcephaly, Micrognathia, Diffuse white matter abnormalities, Hydrocephalus, Fla... |
OMIM:259720 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Recurrent respiratory infections, Upslanted palpebral fissure, Proptosis, Maxil... |
ORPHA:1790 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger,... |
OMIM:122470 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Deeply set eye, In... |
ORPHA:96334 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Basal ganglia calcification, Metaphyseal widening, Respiratory insuf... |
OMIM:135100 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Toe syndactyly, Short stature, Hypertelorism, Micrognathia, Crypto... |
ORPHA:264200 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Hypoplasia of the zygomatic bone, Malar f... |
OMIM:613717 |
Cohen Syndrome |
|
Short metacarpal, Short stature, Microcephaly, Tapered finger, Micrognathia, Hypoplasia of the ma... |
OMIM:216550 |
Xylt1-Cdg |
|
Short stature, Microcephaly, Coxa valga, Synophrys, Flared metaphysis, Growth delay, Proptosis, S... |
ORPHA:370930 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Epicanthus, Short metacarpal, Short stature, Abnor... |
ORPHA:950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Short stature, Microcepha... |
OMIM:300534 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short metacarpal, Mild postnatal gr... |
OMIM:101800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Clino... |
OMIM:170390 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Alg1-Cdg |
|
Progressive microcephaly, Respiratory failure, Cerebral atrophy |
ORPHA:79327 |
Bloom Syndrome |
|
Sparse eyelashes, Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Chronic pulmo... |
ORPHA:125 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Respiratory failure, Cerebral atrophy |
ORPHA:363400 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Clinodactyly of the 5th finger,... |
ORPHA:2636 |
Catel-Manzke Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, Hypertelorism, Cryptorchidism, Sh... |
OMIM:616145 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Short palm, Clinodactyly of the 5th ... |
OMIM:252100 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Deeply s... |
OMIM:180849 |
Donnai-Barrow Syndrome |
|
Malar flattening, Hypertelorism, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of t... |
OMIM:222448 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,... |
ORPHA:228396 |
Cohen Syndrome |
|
Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Microcephaly, Abnormal eyelid morph... |
ORPHA:193 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the tibia, Genu var... |
ORPHA:2753 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, 2-3 toe cutaneous syndactyly,... |
OMIM:620029 |
Donohue Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Large hands, Proptosis |
OMIM:246200 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino... |
OMIM:201000 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Hypertelorism, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Pulmon... |
OMIM:235255 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Short stature, Sparse eyelashes, Micrognathia, Sparse eyebrow, Dyspnea, Dental... |
OMIM:614008 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
Ogden Syndrome |
|
Apnea, Abnormal eyelid morphology, Micrognathia, Deeply set eye, Clinodactyly of the 5th finger, ... |
OMIM:300855 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Microcephaly, Neonatal asphyxi... |
ORPHA:420741 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Arachnodactyly, Broad hallux, Hypertelorism, Hypoplasia of the maxilla, Upslanted ... |
ORPHA:481152 |
Otospondylomegaepiphyseal Dysplasia |
|
Short metacarpal, Sandal gap, Micrognathia, Disproportionate short stature, Tibial bowing, Fibula... |
ORPHA:1427 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Camptodactyly of finger, Microcephaly, Micrognathia, ... |
ORPHA:2554 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C... |
OMIM:615546 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Unconjugated hyperbili... |
OMIM:300908 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Leukoencephalopathy |
OMIM:618233 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Hypotelorism, Deeply set eye, Agenesis of corpus callosum, Dandy-Walker malformatio... |
OMIM:264090 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Dislocated radial head, Microretrognathia, Rhizomelia, Short stature, Spatulate thu... |
OMIM:245600 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Tapered toe, Micrognathia, Synophrys, Leukoencephalopathy, Deeply set eye, ... |
OMIM:620369 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the cerebellum, Advanced eruption of teeth, Shor... |
ORPHA:192 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Finger syndactyly, Toe syndactyly, Microcephaly, Hypertelorism, ... |
ORPHA:2052 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Ptosis, Respiratory insufficiency due to muscle weakness, Respir... |
ORPHA:365 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Epicanthus, Arachnodactyly, Highly arched eyebrow, Microcephaly... |
ORPHA:280 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Microcephaly, Aplasia/Hypoplasia of the patella, Cryptorchidism... |
OMIM:613803 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinoda... |
ORPHA:84 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3107 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p... |
OMIM:212720 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory di... |
OMIM:608836 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Short stature, Stridor, Respiratory failure, Hammertoe, Intercostal muscle weakness |
OMIM:606071 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5... |
ORPHA:3103 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Cerebral edema |
ORPHA:319213 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Toe syndactyly, Short stature, Pulmonary artery stenosis, Hypoplasia of the radius, ... |
ORPHA:140952 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Pulmonary hypoplasia, Multiple pterygia, Micrognathia |
OMIM:601809 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Short stature, Rocker bottom foot, Microcephal... |
ORPHA:163979 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Hypertelorism, Megalencephaly... |
OMIM:617011 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Microcephaly... |
ORPHA:178303 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Hypertelori... |
OMIM:231070 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Hypertelorism, Coxa valga, Dyspnea, Pul... |
ORPHA:3342 |
Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Brachydactyly, Short stature, Hy... |
OMIM:305400 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Micrognathia, Metaphyseal widening, Abnormal finger m... |
ORPHA:536471 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Short stature, Recurrent pharyngitis, Hydrocephalus, ... |
ORPHA:168569 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Leukoencephalopat... |
OMIM:220110 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Epicanthus, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypertelorism,... |
ORPHA:314679 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Hypertelorism, Femoral bowing, Proptosis, Hypoplasia of ... |
ORPHA:83 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Arachnodactyly, Hypertelorism, Micrognathia, Carious teeth, Gen... |
ORPHA:742 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Hypertelorism, Hydrocephalus, Proptosis, Down... |
OMIM:123790 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Micrognathia, Hypoplasia of teeth, Growth delay, Proptosis, Osteolytic ... |
OMIM:608612 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Growth delay, Respiratory fail... |
ORPHA:445038 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Bowing of the long bones, Severe short stature, Hypertelorism, Micrognathia, Metaphyseal chondrod... |
OMIM:156400 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Hypertelorism, Proptosis, Cerebellar hypoplasia, Retrognathia |
ORPHA:561 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cerebral calcification, Short stature, Microcephaly, Tachypnea, Abnormal pulmonary interstitial m... |
OMIM:613658 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Short metacarpal, Rhizomelia, Bowing of the long bones, Micrognathia, F... |
ORPHA:50945 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Basal ganglia calcification, Respiratory failure, Tapered finger |
OMIM:616505 |
Premature Aging Syndrome, Penttinen Type |
|
Short palm, Delayed eruption of teeth, Brachydactyly, Hypertelorism, Micrognathia, Hypoplasia of ... |
OMIM:601812 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Microcephaly, Hypoplasia of the pons, Growth delay, Respiratory failure, Cerebellar hypoplasia, H... |
ORPHA:88618 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Micrognathia, Cryptorchidism, Upper eyelid colobo... |
OMIM:154500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Spinocerebellar Ataxia Type 3 |
|
Proptosis |
ORPHA:98757 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Megalencephaly, Hypertelorism... |
ORPHA:457359 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Rhizomelia, 2-3 toe syndactyly, Long eyelashes, 3-4 finger syndactyly, Cryptophthalmos |
OMIM:615877 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Microcephaly, Micrognathia, Cryptorchidism, Irregular femoral epiphysis, Patellar ... |
OMIM:613805 |
Loeys-Dietz Syndrome 5 |
|
Short stature, Arachnodactyly, Hypertelorism, Growth delay, Proptosis, Flexion contracture of toe... |
OMIM:615582 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Dumbbell-shaped long bone, Small hand, Fibular hypoplasia, Short foot, Stillbirth, Pr... |
OMIM:228520 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, Short... |
OMIM:224690 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz... |
OMIM:180700 |
Keppen-Lubinsky Syndrome |
|
Microcephaly, Postnatal growth retardation, Dyspnea, Micrognathia, Recurrent pneumonia, Upper air... |
ORPHA:435628 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Proptosis, Chemosis, Hypoplasia of the frontal lobes, Cerebral edema |
ORPHA:97339 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Long toe, Mandibular prognathia, Short stature, Arachnodactyly, Megalencephaly... |
ORPHA:3063 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficien... |
OMIM:607625 |
Kniest Dysplasia |
|
Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, Bilateral ptosis, Me... |
ORPHA:485 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hype... |
ORPHA:93260 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Otopalatodigital Syndrome, Type Ii |
|
Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, S... |
OMIM:304120 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Hydrocephalus, Ulnar bowing, Humeroradial synostosis, Upper a... |
OMIM:207410 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Short stature, Microcephaly, Porencephalic cyst, Multifocal cerebral whit... |
ORPHA:51 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Severe short stature, Dislocation of the femoral head, Microcephaly, Micrognathia, Cone-shaped ep... |
OMIM:210730 |
Chand Syndrome |
|
Short fifth metatarsal, Hypertelorism, Atelectasis, Ankyloblepharon, Agenesis of maxillary incisor |
ORPHA:1401 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Short stature, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory ... |
ORPHA:280210 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Bowing of the long bones, Short stature, Flared metaphysis, Advanced ossification of carpal bones... |
OMIM:615349 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Cryptorchidism, Hyd... |
OMIM:601499 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Microcephaly, Micrognathia, Preaxial hand polydactyly, Enlarged metaphyses, Dis... |
ORPHA:508533 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Distal Deletion 9P |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Brachydactyly |
ORPHA:1642 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Short stature, Abnormal distal phalanx morphology of finger, H... |
ORPHA:2673 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Stridor, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Short humerus, Obtuse angle of mandi... |
OMIM:309350 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Cinca Syndrome |
|
Growth delay, Proptosis |
OMIM:607115 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Periventricular cysts, Cavum septum pellucidum, Agenesis of corpus callosum, Short ... |
OMIM:194190 |
Alg9-Cdg |
|
Microretrognathia, Telecanthus, Ulnar deviation of the hand, Rhizomelia, Hypertelorism, Micrognat... |
ORPHA:79328 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... |
OMIM:620296 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta |
OMIM:601216 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In... |
OMIM:610505 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Growth delay, Respiratory failure, Cerebellar hypoplasia, Subcortical w... |
ORPHA:3240 |
Pseudoaminopterin Syndrome |
|
Epicanthus, Brachydactyly, Short stature, Overlapping toe, Highly arched eyebrow, Hypertelorism, ... |
ORPHA:221120 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Simplified gyral pattern, Deeply set eye, Ce... |
ORPHA:500150 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypopla... |
ORPHA:776 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Hypertelorism, Microcephaly, Micrognathia, Emphysem... |
OMIM:614437 |
Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytopenia |
ORPHA:391673 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... |
ORPHA:330021 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Whipple Disease |
|
Hydrocephalus, Respiratory insufficiency, Proptosis, Cough, Pleuritis |
ORPHA:3452 |
Degcags Syndrome |
|
Micrognathia, Synophrys, Hypotelorism, Intrauterine growth retardation, Agenesis of corpus callos... |
OMIM:619488 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Proptosis, Micrognathia |
OMIM:615381 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Hypertelorism, 2-3 finger syndactyly, Dental malocclusion, Fac... |
OMIM:269500 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thick eyebrow, Brachydactyly, Short stature, Highly arched eyebrow, Microcephaly, Micrognathia, A... |
ORPHA:444077 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalop... |
OMIM:252010 |
Kagami-Ogata Syndrome |
|
Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Limb undergrowth, Pulmonary hy... |
OMIM:608149 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius... |
OMIM:227645 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
Digeorge Syndrome |
|
Short stature, Microcephaly, Hypertelorism, Atelectasis, Asthma, Chronic pulmonary obstruction, R... |
OMIM:188400 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Hypertelorism, Metatarsus adductus, Micrognathia, Flared metaphysis, De... |
OMIM:249420 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Pneumonia, Highly arched eyebrow, Hypertelori... |
ORPHA:309282 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Short stature, Rocker bottom foot, Tibial torsion, Camptodactyly of finger, Retrog... |
OMIM:602782 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure |
ORPHA:26791 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla... |
OMIM:108721 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Micrognathia |
OMIM:607598 |
Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Hyperostosis Cranialis Interna |
|
Proptosis, Osteosclerosis of the base of the skull |
OMIM:144755 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Absent septum pellucidum, Microcephaly, Hypertelorism, Micrognathia, Upslanted ... |
OMIM:300868 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Nablus Mask-Like Facial Syndrome |
|
Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Hypertelorism, Absent eyelashes... |
OMIM:608156 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Mandibular prognathia, Respiratory failure, Chylothorax, ... |
OMIM:620278 |
Erdheim-Chester Disease |
|
Dyspnea, Abnormal pulmonary interstitial morphology, Xanthelasma, Proptosis, Pulmonary fibrosis, ... |
ORPHA:35687 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Cerebral atrophy, Growth delay, Hypopnea, Respiratory failure, Secondary... |
OMIM:617248 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature |
ORPHA:93945 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Femur fracture, Hydrocephalus, Recurrent pneumonia, Growth delay, Proptosis, De... |
OMIM:612301 |
Cinca Syndrome |
|
Growth delay, Proptosis, Brachydactyly |
ORPHA:1451 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted... |
ORPHA:308552 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypertelorism, Bilateral cryptorchidism, Hypopl... |
OMIM:211380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Hypopla... |
OMIM:616538 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Microcephaly, Tapered finger, Hypoplasia of the maxilla, Syno... |
OMIM:609460 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla... |
ORPHA:1248 |
Fraser Syndrome 2 |
|
Respiratory failure, Cryptophthalmos, Cutaneous syndactyly |
OMIM:617666 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia, Adducted thumb |
ORPHA:171430 |
Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Thick cerebral cortex, Proptosis |
ORPHA:352582 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Epicanthus, Proximal radio-ulnar synostosis, Short stature, Bra... |
ORPHA:794 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Lower eyelid retraction, Proptosis, Multiple impacted teeth |
OMIM:118400 |
Axenfeld-Rieger Syndrome |
|
Growth delay, Hypoplasia of the maxilla, Telecanthus, Hypertelorism |
ORPHA:782 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Abnormal fingertip morphology, Micrognathia, Proptosis, Osteolytic defects of the ... |
ORPHA:90154 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Hypertelorism, Avascular necrosis of the capital femoral epiphysis, Large placenta... |
OMIM:222470 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephalus, Short thumb, Prolonged... |
OMIM:227646 |
Noonan Syndrome |
|
Brachydactyly, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, Pulmonary artery steno... |
ORPHA:648 |
Geleophysic Dysplasia 3 |
|
Short stature, Pneumonia, Dyspnea, Short foot, Respiratory failure, Limb undergrowth, Brachydactyly |
OMIM:617809 |
Graves Disease, Susceptibility To, 1 |
|
Proptosis |
OMIM:275000 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Short stature, Bowing of the legs, Aplasia/Hypoplasia of the patella, Cryp... |
OMIM:617063 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Ulnar deviation of the hand, Hypertelorism, Hypoplasia of the maxilla, Malar flatten... |
OMIM:122880 |
Meester-Loeys Syndrome |
|
Short stature, Arachnodactyly, Malar flattening, Hypertelorism, Proptosis, Broad distal phalanx o... |
OMIM:300989 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Epicanthus, Short stature, Overlapping toe, Highly arche... |
OMIM:213980 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Machado-Joseph Disease |
|
Proptosis, Ptosis |
OMIM:109150 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Abnormal nasolacrimal system morphology, Absent septu... |
ORPHA:2556 |
Localized Scleroderma |
|
Abnormality on pulmonary function testing, Dental malocclusion, Abnormal facial skeleton morpholo... |
ORPHA:90289 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Short stature, Microcephaly... |
ORPHA:647 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Eyelid coloboma, Palpebral edema, Telecanthus |
ORPHA:2036 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Epicanthus, Short stature, Hypertelorism, Micrognathia, ... |
OMIM:218040 |
Keppen-Lubinsky Syndrome |
|
Microcephaly, Micrognathia, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficie... |
OMIM:614098 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Brachydactyly, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Short toe... |
ORPHA:1519 |
Infantile Krabbe Disease |
|
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re... |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Short stature, Absent eyelashes, Proptosis, Osteolytic defects of th... |
ORPHA:90153 |
Waldenström Macroglobulinemia |
|
Epistaxis, Respiratory insufficiency, Pulmonary infiltrates, Proptosis, Pleural effusion |
ORPHA:33226 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Abnormal lung lobation, Hypoplasia of the ca... |
OMIM:215140 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Hypertelor... |
ORPHA:798 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hypoplasia... |
ORPHA:2588 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Clinodactyly of the 5th toe, Hypertelorism, Micrognat... |
ORPHA:37553 |
Isolated Exencephaly |
|
Abnormal facial skeleton morphology, Proptosis, Holoprosencephaly, Aplasia/Hypoplasia of the cere... |
ORPHA:563612 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Chro... |
ORPHA:900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Coxa valga, Postnatal growth retardation, Micrognathia, Hypoplasia of teeth, Growth delay, Propto... |
OMIM:248370 |
Relapsing Polychondritis |
|
Dyspnea, Atelectasis, Conjunctivitis, Cough, Abnormal pattern of respiration |
ORPHA:728 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Camptodactyly, Clinodactyly, Chronic lung disease, Ptosis |
ORPHA:228426 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia, Hypertelorism, Proptosis, Malar flattening, Retrognathia |
OMIM:600775 |
Wyburn-Mason Syndrome |
|
Proptosis, Epistaxis |
ORPHA:53719 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation... |
ORPHA:3404 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Machado-Joseph Disease Type 1 |
|
Substantia nigra gliosis, Degeneration of the striatum, Proptosis |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Substantia nigra gliosis, Degeneration of the striatum, Proptosis |
ORPHA:276241 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus |
ORPHA:676 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Holoprosencephaly 3 |
|
Microcephaly, Hypotelorism, Proptosis, Holoprosencephaly, Malar flattening, Cyclopia |
OMIM:142945 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Lacrimal duct atresia, 2-3 toe syn... |
OMIM:106260 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Malar flattening, Cerebellar vermis hypoplasia, Proptosis, Hypertelorism |
OMIM:602482 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Ischemic stroke, Respiratory failure, Ptosis |
ORPHA:679 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Short stature, Hypertelorism, Bifid distal phalanx of the thumb, Crypt... |
ORPHA:97360 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Zttk Syndrome |
|
Epicanthus, Unilateral lung agenesis, Short stature, Sparse eyebrow, Dysplastic corpus callosum, ... |
OMIM:617140 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia... |
OMIM:216340 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Da... |
ORPHA:31204 |
Stickler Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Short stature, Arachnodactyly, Abnorma... |
ORPHA:828 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Hydrocephalus... |
OMIM:164210 |
Machado-Joseph Disease Type 3 |
|
Substantia nigra gliosis, Degeneration of the striatum, Proptosis |
ORPHA:276244 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Absent eyelas... |
ORPHA:85199 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Short stature, Arachnodactyly, Phalangeal dislocation, Hypert... |
OMIM:130070 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Syndactyly, Sparse eyelashes, Short stature, Sparse eyebrow, Hypoplasia ... |
OMIM:129400 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Sandal gap, Decreased fibular diameter, Postnatal growth retardation, Sparse eyebr... |
OMIM:619127 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Secondary microcephaly, Cerebellar hypoplasia, Respiratory insufficiency |
OMIM:618329 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Carious teeth, Diaphyseal sclerosis, Genu valgum, Cortical thickening of l... |
OMIM:131300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus... |
ORPHA:2020 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Proptosis, ... |
OMIM:610915 |
17Q11 Microdeletion Syndrome |
|
Short stature, Hypertelorism, Bowing of the legs, Abnormal lung morphology, Diaphyseal dysplasia,... |
ORPHA:97685 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Abnormal eyebrow morphology, Cerebral calcification, Short stat... |
ORPHA:1775 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short stature, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Disproport... |
ORPHA:93315 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Brachydactyly, Sparse eyelashes, H... |
OMIM:209885 |
Cerebrotendinous Xanthomatosis |
|
Abnormal eyelid morphology, Myelopathy, Abnormal globus pallidus morphology, Abnormal lung morpho... |
ORPHA:909 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Palpebral edema, Microcephaly, Hypertelorism, Hydrocephalus, Synophrys, Genu valgu... |
OMIM:619475 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Short metacarpal, Severe short stature, Radial bowing, Coxa valga, Metatarsus addu... |
OMIM:271640 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Rhizomelia, Short stature, Micromelia, Hypoplastic pulmonary veins, Bowing of t... |
OMIM:610682 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Short stature, Broad hallux, Hyp... |
OMIM:614188 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia |
ORPHA:90065 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency, Equinus calcaneus |
ORPHA:746 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:309520 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal lung lobation, Abnormal finger morphology, Clinodactyly of the 5th f... |
ORPHA:744 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Curly eyelashes, Microcephaly, Micrognathia, Proptosis, Polydactyly, Clinodactyly ... |
OMIM:301022 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Secondary microcephaly, Cerebra... |
OMIM:105830 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius, Prolonged ... |
OMIM:600901 |
Holoprosencephaly 9 |
|
Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hypoplasia of th... |
OMIM:610829 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Short stature, Camptodactyly of finger, Basal ganglia calcification, Long fingers,... |
OMIM:256040 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Short stature, Hypertelorism, Diaphyseal dysplasia, Proptosis,... |
OMIM:619727 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius, Prolonged ... |
OMIM:227650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Hypertelorism, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Proptosis... |
OMIM:609192 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Spontaneous pneumothorax, Arachnodactyly, Postaxial polydactyly, Hypertelorism, Micro... |
OMIM:610168 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Arachnodactyly, Distal ulnar hypoplasia, Tapered fing... |
OMIM:600920 |
Cleft Velum |
|
Hypoplasia of the maxilla, Aspiration pneumonia |
ORPHA:99772 |
Viss Syndrome |
|
Micrognathia, Deeply set eye, Emphysema, Long toe, Microretrognathia, Short stature, Arachnodacty... |
OMIM:619472 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Growth del... |
ORPHA:79404 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Cerebral atrophy, Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypertelorism, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:50814 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Telecanthus, Toe syndactyly, Sparse eyelashes, Microcephaly, Hy... |
OMIM:129900 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Proportionate short stature, Hypoplasia of the maxilla, Shallow orbits, Broad phal... |
OMIM:277600 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom... |
ORPHA:805 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Short stature, Overlapping toe, Hypertelorism, Bilateral crypto... |
OMIM:617402 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Liver Disease, Severe Congenital |
|
Epicanthus, Pulmonary edema, Pneumonia, Micrognathia, Hydrocele testis, Proptosis, Cough, Umbilic... |
OMIM:619991 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:241310 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Respiratory failure, Talipes equinovarus, Ptosis |
ORPHA:14 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis |
ORPHA:533 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hyperglycemia, Diabetes mellitus |
ORPHA:465508 |
Neurofibromatosis Type 1 |
|
Short stature, Abnormal eyelid morphology, Cryptorchidism, Hydrocephalus, Genu valgum, Lisch nodu... |
ORPHA:636 |
Pallister-Killian Syndrome |
|
Micrognathia, Apneic episodes in infancy, Camptodactyly of 2nd-5th fingers, Short palm, Clinodact... |
OMIM:601803 |
Peripheral Primitive Neuroectodermal Tumor |
|
Proptosis |
ORPHA:370348 |
Peters-Plus Syndrome |
|
Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Conical i... |
OMIM:261540 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Short me... |
OMIM:608328 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Hypoplas... |
ORPHA:1101 |
Okamoto Syndrome |
|
Hypertelorism, Microcephaly, Severe postnatal growth retardation, Proptosis, Polydactyly, Hypopla... |
ORPHA:2729 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Brachydactyly, Toe syndactyly, Short stature, Abnormal nasolacrimal sy... |
OMIM:101400 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory insufficiency, Cerebral atrophy, Pulmonary infiltrates, Res... |
ORPHA:646 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Hypertelorism, Abnormal eyelas... |
ORPHA:286 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Hypotelorism, Proptosis, Holop... |
OMIM:157170 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Pancreatic And Cerebellar Agenesis |
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Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia |
OMIM:609069 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla, Decreased testicular size |
ORPHA:3044 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Growth delay, Respi... |
ORPHA:731 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Hyperbilirubinemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Hypohidrotic Ectodermal Dysplasia |
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Sinusitis, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Aplasia/Hypoplasia of th... |
ORPHA:238468 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
Distal Deletion 19P |
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Long toe, Arachnodactyly, Hypoplasia of the maxilla, Umbilical hernia, Thick eyebrow |
ORPHA:96129 |
Branchiooculofacial Syndrome |
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Telecanthus, Agenesis of cerebellar vermis, Proximal placement of thumb, Microcephaly, Postnatal ... |
OMIM:113620 |
Meningioma |
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Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi... |
ORPHA:2495 |
Cleidocranial Dysplasia 2 |
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Delayed eruption of primary teeth, Coxa valga, Hypoplasia of the maxilla, Supernumerary tooth, Ge... |
OMIM:620099 |
Cowden Syndrome 1 |
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Hydrocele testis, Hypoplasia of the maxilla, Hemimegalencephaly, Micrognathia |
OMIM:158350 |
Juvenile Xanthogranuloma |
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Proptosis, Blepharitis |
ORPHA:158000 |
Rabson-Mendenhall Syndrome |
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Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Hypopla... |
OMIM:305100 |
Cowden Syndrome 5 |
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Hydrocele testis, Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
Lipodystrophy, Familial Partial, Type 2 |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Cowden Syndrome 6 |
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Hydrocele testis, Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Dacryoc... |
OMIM:604292 |
Pyruvate Carboxylase Deficiency |
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Hyperglycemia, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:3008 |
Loeys-Dietz Syndrome 3 |
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Arachnodactyly, Hypertelorism, Pneumothorax, Dental malocclusion, Proptosis, Talipes equinovarus,... |
OMIM:613795 |
Hyperthyroidism, Nonautoimmune |
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Proptosis |
OMIM:609152 |
Familial Gestational Hyperthyroidism |
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Proptosis |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Proptosis |
ORPHA:424 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Hypertelorism, Microcephaly, Cryptorchidis... |
OMIM:201750 |
Primrose Syndrome |
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Epicanthus, Cerebral calcification, Short stature, Hypertelorism, Bilateral cryptorchidism, Crypt... |
OMIM:259050 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Large placenta, Cryptorchidism, Proptosis, Umbilical hernia |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Hypoplastic distal radial epiphyses, Short stature, Hypoplasia ... |
OMIM:182250 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Floating-Harbor Syndrome |
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Short metacarpal, Brachydactyly, Short stature, Persistence of primary teeth, Avascular necrosis ... |
ORPHA:2044 |
Beckwith-Wiedemann Syndrome |
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Cryptorchidism, Proptosis, Dandy-Walker malformation |
OMIM:130650 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Atypical Werner Syndrome |
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Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:79474 |
Tropical Endomyocardial Fibrosis |
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Orthopnea, Dyspnea, Pulmonary venous hypertension, Proptosis |
ORPHA:75565 |
Leprechaunism |
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Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... |
ORPHA:508 |
Retinoblastoma |
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Proptosis |
ORPHA:790 |
Scorpion Envenomation |
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Hyperglycemia, Glycosuria |
ORPHA:466677 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia |
ORPHA:79102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hyperglycemia, Hypoglycemia |
OMIM:220111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyperglycemia |
ORPHA:293987 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla |
OMIM:180500 |